Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Peds neuro boards, V2 > Metabolic Disorders > Flashcards

Metabolic Disorders Flashcards

1
Q

Methylmalonic Acidemia

  1. Inheritance
  2. Causes (2 main types)
  3. Result = ____
  4. Symptoms (10)
  5. Treatment (3)
A
  1. Autosomal Recessive
  2. Causes
    1. Defect in enzymes along the propionic acid pathway
      1. methylmalonate CoA mutase
      2. methylmalonate CoA epirimase
      3. enzymes required to synthesize adenosylcobalamin
    2. (acquired) vitamin B12 deficiency
  3. Cannot break down:
    1. Valine
    2. isoleucine
    3. threaonine
    4. methionine
    5. Odd chain fatty acids
  4. Symptoms
    1. feeding problems, hypotonia, lethargy / coma
    2. Severe anion gap metabolic acidosis
    3. ketosis
    4. hyperammonemia
    5. hypoglycemia
    6. electrolyte / fluid abnormalities
    7. hematologic abnormalities
    8. liver / renal dysfunction
    9. Developmental delay / ID
    10. Extrapyramidal movement disorder (due to BG damage)
  5. Treatment
    1. Metronidazole
    2. low protein diet
    3. supplementation with carnitine and AA mixtures not containing the ones they can’t metabolyze
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Biotinidase Deficiency

  1. Inheritance
  2. Function of deficient enzyme
  3. Symptoms (8)
  4. Lab evaluation (3)
A
  1. Inheritance: autosomal recessive
  2. Symptoms
    1. Seizures
    2. hypotonia
    3. ataxia
    4. developmental delay
    5. hearing / visual loss
    6. spastic paraparesis
    7. cutaneous abnormalities
    8. alopecia
  3. Lab evaulation
    1. ketaocidosis
    2. hyperammonemia
    3. organic aciduria
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Arginosuccinate lyase deficiency

  1. inheritance
  2. symptoms (7)
  3. Lab findings (4)
A
  1. Inheritance: autosomal recessive
  2. Symptoms
    1. Vomiting
    2. lethargy
    3. hypotonia
    4. seizures
    5. coma
    6. respiratory failure
    7. trichorrhexis nodosa: brittle hair with nodules along the shaft
  3. Lab findings
    1. elevated serum citrulline
    2. elevated serum argininosuccinic acid
    3. Decreased serum artginine
    4. elevate urine orototic acid
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Galactosemia

  1. Inheritance
  2. Defective Enzyme
  3. Symptoms (8)
  4. Treatment
A
  1. Autosomal Recessive
  2. Galactose-1-phosphate uridyl transferase
  3. Symptoms
    1. Infantile onset
    2. Enlarged liver
    3. cataracts
    4. gram-negative sepsis
    5. Poor weight gain
    6. ovarian failure
    7. developmental delay
    8. speech disorders
  4. Treatment
    1. Diet free of galactose
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

X-linked Adrenal leukodystrophy

  1. Inheritance
  2. Defective enzyme and result
  3. MRI features
A
  1. X-linked recessive
  2. Mutation in ABCD1 (ALD) gene > peroxisomal protein involved in VLCFA degradation >
  3. inflammatory demyelination (occpital / parietal first, spares arcuate fibers)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Various clinical phenotypes of Adrenal leukodystrophy

  1. Childhood-onset(7)
  2. Adolescent onset (2)
  3. Adult onset (5)
  4. Adrenomyeloneuropathy (6)
  5. Addison’s only (1)
  6. Heterozygous females (3)
A
  1. Childhood onset (2.5-10 years)
    1. Bronze-skinned kid with ADHD-like features, then develops problems with speech and handwriting
    2. Subsequently develops spacial disordientation, seizures, and spastic quadriparesis
  2. Adolescent onset (10-21)
    1. Similar to childhood, but presents later
    2. Endocrine dysfunction
  3. Adult onset adrenoleukodystrophy
    1. rapidly progressive dementia
    2. psychiatric changes (psychosis, schizoaffective)
    3. CNS demyelination
    4. Endocrine dysfunction
    5. possible myelopathy or neuropathy
  4. Adrenomyeloneuropathy (early adulthood)
    1. Rapidly progressive spastic paraparesis
    2. bowel / bladder incontinence
    3. sexual dysfunction
    4. mild dementia
    5. psychiatric changes
    6. Sensorimotor, primarily axonal neuropathy
  5. Addison’s only
    1. Isolated adrenal dysfunction
  6. Heterozygous females (develop by age 60)
    1. Peripheral neuropathy
    2. fecal incontinence
    3. pain in legs
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Gaucher’s disease

  1. Epidemiology Note
  2. Inheritance
  3. Defective enzyme
  4. Symptoms
    1. Type 1 (5)
    2. Type 2 (7)
    3. type 3
  5. Treatment
A
  1. Most prevalent genetic disorder among Ashkenazi Jews (account for ⅔ of all cases)
  2. Inheritance = autosomal recessive
  3. Defectvie Enzyme: b-glucocerebrosidase
  4. Symptoms
    1. Type 1 (most common, doesn’t invade CNS)
      1. HSM
      2. Anemia
      3. Thrombocytopenia
      4. Skeletal abnormalities (osteopenia / osteonecrosis)
      5. Pulmonary infiltrates
    2. Type 2 (onset befor age 2, death by 2-4)
      1. HSM
      2. Hydrops fetalis
      3. Cutaneous changes
      4. Psychomotor involvement
      5. Spasticity
      6. Coreoathetosis
      7. Occulomotor abnormalities
    3. Type 3 (onset after 2, slow progression)
      1. HSM
      2. Psychomotor retardation
      3. spasticity
      4. Occulomotor abnormalities
  5. Treatment: enzyme replacement therapy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Krabbe’s Disease

  1. AKA
  2. Inheritance
  3. Defect
  4. Most common age of onset
  5. Presentation
A
  1. AKA Globoid cell leukodystrophy
  2. autosomal recessive
  3. galactosylceramide beta-galactosidase
  4. onset: typically in infancy
  5. Presentation, 10 Ups, and 7 downs
    1. UPS
      1. temperature
      2. babinski
      3. Movements (opisthotonus)
      4. CSF protein
      5. Signal in
        1. Basal Ganglia
        2. Thalamus
        3. Corona radiate
        4. brainstem
        5. cerebellum
      6. Globoid cells
    2. DOWNS
      1. DTRs (other than babinski)
      2. appetite
      3. sight
      4. hearing
      5. Cognition
      6. Myelin in nerves (demyelination)
      7. nerve conduction velocities
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Maple Syrup Urine Disease

  1. Gene
  2. Inheritance
  3. Symptoms
  4. Treatment
  5. Subtypes (4)
A
  1. one of four genes part of : defect in branched-chain keto acid dehydrogenase complex
  2. Inheritance: Autosomal Recessive
  3. Dark urine (made by blood and high levels of branched-chain amino acids and ketoacids)
  4. Treatment: protein restricted diet
  5. Subtypes
    1. Intermidiate (not as bad, some enzymes)
    2. Thiamine responsive
    3. Intermittent
      1. response to catabolic loads (infection, large protein load)
      2. urine / cerumen only smells during these episodes.
    4. Dihydrolipoyl dehydrogenase deficient (only in infancy)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Menke’s Disease

  1. Inheritance
  2. Gene mutation and effect
  3. symptoms (6)
  4. Lab findings
A
  1. X-linked recessive
  2. ATP7A > deffective copper transporter > widespread copper deficiency in brain and organs
  3. Symptoms
    1. Brittle hair (pili torti)
    2. hyperelastic skin
    3. thin / absent eyebrows
    4. cerebral vasculopathy and progressive cerebral atropy > subdrual hematomas / hygromas
    5. Developmental delay
    6. Seizures
  4. Lab findings
    1. low serum cerulopasmin and copper
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

McArdle’s Disease:

  1. AKA (2)
  2. Inheritance
  3. defective enzyme
  4. Symptoms (2)
  5. Diagnosis (3)
A
  1. AKA
    1. myophosphorylase deficiency
    2. Glycogen storage disease type V
  2. Inheritance: autosomal recessive
  3. Decreased phosphorylase activity exclusively in muscles
  4. Symptoms
    1. muscle cramps and myoglobinuria following intense exercise
    2. absent DTR
  5. Diagnosis
    1. lactate does not rise after exercise
    2. Electrographically silent muscle cramps
    3. muscle biopsy = glycogen crystals and absent myophosphorylase
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q
  1. Defective enzyme in:
  2. Von Girke’s
  3. Pompeii’s disease
  4. Cori
  5. McArdles
A
  1. Von Girkes: Glucose-6-Phosphatase (“6 letters in ‘Girke’s’ “ )
  2. Pompeii = Acid Maltase (acid rain at Pompeii)
  3. Cori: Debranching enzyme (branches of a Cor-tree)
  4. Mcardles: Skeletal muscle glycogen phosphorylase
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

GM1 gangliosidosis

  1. Inheritance
  2. mutation and enzyme
  3. Subtypes (3)
  4. Symptoms (5)
A
  1. Autosomal recessive
  2. GLB1 gene > beta-galactosidase
  3. Onset
    1. Infantile:
      1. 6-18 months
      2. Death by age 7
  4. Type II:
    1. Intermediate form
  5. Type III:
    1. Adult form (mildest)
  6. Symptoms
    1. Hypotonia progressing to spasticity
    2. Seizures
    3. cognitive and visual impairment
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Fabry’s disease

  1. Inheritance
  2. Gene
  3. Onset
  4. Symptoms (8)
A
  1. X-linked recessive
  2. Defecient in alpha galactosidase A (AGA) > buildup of globotriaosylceramide (fatty substance)
  3. Childhood / adolescence
  4. Symptoms
    1. Severe limb pain worsened by summer, after exertion, or during periods of stress
    2. Corneal deposits
    3. Rest are “A’s”
      1. Angiokeratosis
      2. Acroparasthesias
      3. Autonomic failure with Anhydrosis
      4. Arrhythmia / Hypertorphic heart failure
      5. Acute renal failure
      6. Abdominal Pain
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Metachromatic leukodystrophy

  1. Inheritance
  2. defective enzyme
  3. symptoms (3)
A
  1. Autosomal recessive
  2. arylsulfatase A
  3. Symptoms
    1. behavioral and cognitive disturbances
    2. seizures
    3. periopheral neuropathy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q
A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Isovaleric Acidemia

  1. Inheritance
  2. Deficiency
  3. Symptoms (3)
  4. Treatment (3)
A
  1. Inheritance = autosomal recessive
  2. Deficienty enzyme: isovaleryl-CoA dehydrogenase
    1. Leads to accumulation of isovaleric acid
  3. Symptoms
    1. lethargy / vomiting within first days of life
    2. Ketoacidosis
    3. urine smells like sweaty feet
  4. Treatment
    1. dietary protein restriciton
    2. levocarnitine
    3. glycine supplementation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Propionic Acidemia

  1. Inheritance
  2. Defective enzyme
  3. Symptoms
A
  1. Autosomal recessive
  2. Defect in propionyl-CoA carboxylase
  3. Symptoms
    1. Lethargy
    2. hypotonia
    3. Seizures
    4. Dehydration
    5. Hepatomegaly
    6. neutropenia
    7. thrombocytopenia / hemorrhages
    8. basal ganglia infarctions
    9. Hyperammonemia
    10. ketoacidosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Citrulinemia

  1. Inheritance
  2. defficient enzyme
    1. Leads to accumuation of ___
  3. Symptoms (5)
A
  1. Inheritance = autosomal recessive
  2. Defective enzyme = argininosuccinate synthetase
    1. Accumulation of Orotic acid
    2. Accumulation of Ammonia
  3. Symptoms
    1. Vomiting / lethargy / hypotonia
    2. Hepatomegaly
    3. Ataxia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Sandhoff disease

  1. Slightly larger category name
  2. Inheritance
  3. deficient enzyme
  4. Presentation (7)
A
  1. GM2 gangliosidosis disorder
  2. autosomal ressive
  3. deficiency of both hexosaminidase A and B
  4. Presentation (3-6 months)
    1. Increased startle response
    2. neuro/motor regression
    3. spasticity
    4. Optic atrophy/ blindness
    5. cherry red spot in macula
    6. Macrocephaly
    7. Hepatosplenomegaly (how you differentiate from tay-sachs)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

2.5 y.o. girl with weakness and muscle weakness a year prior.
normal CK
EMG = neuropathic motor units
exaggerated DTR
atrophy and fasciculations of the tongue

A

Tay-sachs

hexoseaminidase A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Infant arrives with suspected child abuse due to retinal hemorrhages.

Subsequently found to by dystonic / opisthotonic, and macrocephalic

What MRI findings lead you to call off CPS?
What is the disorder?
what do you warn family of in times of Illness?

A

MRI findings of Frototemporal atrophy with prominent sylvian fissures (“bat wing” appearance)

Glutaric acidemia type I

encephalopathy, seizures, vomiting, acidosis, hyperammonemima, and ketotic hypoglycemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

“sweaty feet odor”

Think of what three disorders and how to separate them?

A

Glutaric aciduria type II:

  • Hepatomegaly
  • typically in

Propionic Acidemia

  • elevated propionic acid
  • Mention unable to break down “VOMIT”
    • Valine
    • odd chain fatty acids
    • methionine
    • Isoleucine
    • Threonine
    • …also cholesterol

Isovaleric acidemia

  • Will be hard to differentiate PA from IA without mentioning propionic acid
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What two metabolic conditions do you want to rule out if you see an infant with retinal hemorrhages

A

Glutaric aciduria type I

Menkes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

(dyslexia trip-up)
HARP syndrome versus Hartnup disease

A

HARP = sometimes due to PANK2 gene

  • Hypobetalipoproteinemia
  • Acanthosis
  • Retinitis pigmentosa
  • Psllifsl frhrnrtsyion

Hartnup disease = Aminoacidopathy due to transport of neutral amino acids across kidney / intestine

  • H - hypotonia (not always), H - hat needed (due to photosensitvity from biotin deficiency)
  • A - ataxia, A - aminoaciduria, A - altered mental status
  • R - Rash (due to photosensitivity)
  • T - tryptophan = deficient
  • N - Nicotinamide is needed
  • U - urine and
  • P - Poop have elevated neutral amino acids
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

“smelly baby”

“sweaty feet”
“musty / mousy”
“maple syrup”

A

Sweaty feet

  • Glutaric aciduria type II
  • isovalaric acidemia
  • propionic acidemia

Musty / mousy

  • phenylketonuria

Maple syrup

  • MSUD
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

All mucopolysaccharidoses are due to an inability to do what?

A

Break down glycosaminoglycans (GAGs) in lysosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

zebra bodies

A

Mucopolysaccharidoses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Abetalipoproteinemia

AKA:
inheritance
Deficiency
Symptoms

A

AKA: Bassen-Kornsweig syndrome

inheritance: Autosomal Recessive
defect: MTP transporter protein (“more toilet paper” for my stetorrhea)
symptoms: B.A.S.S.E.N.

  • B-apolipoprotein is deficient
  • A - acanthosis (on peripheral smear), Ataxia, Arreflexia, vitamins (A),D,E,K are deficient (due to steatorrhea)
  • S - teatorrhea
  • S - ensory loss (proprioception / vibratory), (S)pinocerebellar degeneration
  • E - ye findings (pigmentary retinopathy)
  • N - europathy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Acute-intermittent porpheria, but also has a rash

What do you think of?

A

Variagate Porphyria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Peroxisomal disorders (3)

Lysosomal disorders (3)

A

Peroxisomal disorders

  • Neonatal Adrenal leukodystrophy
  • Infantile refsum disease
  • Zellweger disease

Lysosomal disorders

  • Mucopolysaccharidoses
  • Neuronal Ceroid Lipofuscinoses
  • Sphingolipidoses
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Adrenal-leukodystrophy

Diagnostic test results (3)

A
  • Increased Very long chain fatty acids
  • lamillar cytoplasmic inclusions in brain / adrenal macrophages
  • demyelination (leukodystrophy), typically occiput is first
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Bronze-skinned child with ADHD and cognitive decline

What Labs (3) would you order to confirm this kid doesn’t have?

A

(rule out Adrenalleukodystrophy)

MRI: occipitut-first demyelination

Labs: Increased VLCFA

Histology: Lamellar cytoplasmic inclusions in brain / adrenal macrophages

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Young man comes in with schizophrenia-like episodes, but also dementia and spasticity.
What do you test for?

A

Serum VLCFA (for adult-cerebral form of Adrenaleukodystrophy)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Aromatic L-amino-Decarboxylase Deficiency

AKA
Onset
symptoms (5)
Diagnostic test

A

AKA: AADC deficiency

Onset: first fiew months

Symptoms: AA(AA)DC

  • (A)utonomic dysfunction (hypothermia, problems with sweating
  • (A)taxia, (A)thetosis
  • (A)xial HypOtonoia but limb HypERtonia
  • (D)ystonia / torticollis
  • C(SEE) - Ptosis, oculogyric crisis

Diagnosis

  • CSF neurotransmitters
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Disorders involving inreased Very long chain aminoa cids (VLCFA)

A

“Raz the weak, sickly dog”

R - efsum disease (infantile only), Rhizomelic chondroplasia punctata)

A - Adrenal leukodystrophy

Z - Zellweger syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Dopamine beta-hydroxylase deficiency

Inheritance

Symptoms (3)

Treatment (1)
what disease does this treatment NOT work for and why?

A

Can’t convert Dopamine to Norepenepherine

Inheritance: AR

Symptoms (remember beta-HYdroxylase)

  • HypOthermia
  • HypOglycemia
  • HypOtension

Treatment:

  • L-DOPS (DL-Threo-dihydroxyphenylserine)
  • Doesn’t work on AADC deficiency because you need AADC to convert it to Norepi
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Alexander’s Disease

A

George in ‘seinfield’ is played by Jason Alexander

  1. Defect in GFAP
  2. Autosomal Dominant
  3. Megalencephaly
  4. Seizures
  5. Spastic Quadriparesis
  6. Manifests in Infancy (he looks kinda like a baby)
  7. Death in a few years (how long Seinfeld should have lasted)
  8. MRI shows Frontal balding (like Jason Alexander)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Classic refsum disease

Inheritance
Defective enzyme
Accumulated Protein
Symptoms (9)
treatment

A

Inheritance: autosomal recessive
enzyme: phytanoyl-CoA hydroxylase > increased phytanic acid
Symptoms, remember “REFSUM”

  • Rough skin (ichthiosis), Retinitis pigmentosa
  • Ears (deafness, Eyes (night-blindness)
  • Falls and Fytanic acid elevation
  • Smell (anosmia)
  • Unsteady gait (ataxia)
  • Myelin is lost (demyelinating neuropathy with onion-bulbs)

Treat with restriction of phytanic acid

40
Q

Infantile Refsum disease

Inheritance

Features in common with classic Refsum (4)

Features different than classic Refsum (2)

A

Inheritance - autosomal recessive

Features in common with classic Refsum

  • demyelinating neuropathy (like classic refsum)
  • Retinitis pigmentosa (like classic refsum)
  • Deafness (like classic refsum)
  • Elevated Phytanic acid

Features that are different

  • Steatorrhea
  • elevated VLCFA
41
Q

Down-syndrome feature which is also associated with Severe metabolic disorder

A

Brushfield spots (also seen in Zellweger syndrome)

42
Q

Zellweger syndrome

inheritance
symptoms

A

Inheritance = autosomal recessive

Symptoms

  • Characteristic appearance
    • prominent forehead
    • prominent epicanthal folds
  • Cataracts
  • Brushfield spots (seen in down syndrome)
  • Neuronal migration defects (PMG, heterotopia, pachygyria)
  • demyelinating neuropathy
  • HSM
  • Renal cysts

Labs

  • Increased VLCFA
43
Q

Metabolic disorders which target the U-fibers on MRI

A

Alexanders

Canavans

45
Q

Canavan disease

A

::flailing arms:: “U didn’t see the spartan CaNAAvan, carrying Big, wet Sponges”

  • Defect of aspartoacylase,
  • Macrocephaly (big), but with spongy degeneration (mri shows involvement of U-fibers)
  • Seizures
  • Spasticity and opisthotonus (flailing)
  • Optic atrophy
  • elevated N-acetyl-L-aspartic acid (NAA) in:
    • Serum
    • Urine
    • MR-spectroscopy
46
Q

Carbohydrate-Dependent Glycoprotein syndromes

  1. When should you consider this disease?
  2. defect
  3. Symptoms

(type 1)

A
  1. Consider in a patient with seizure or developmental delay with coagulopathy
  2. Defect in phosphomannomutase (sounds like a spell in harry potter that would cause this)
  3. Reverse the spell with ATKINS
    1. Ataxia, Abnormal fat distribution (lipodystrophy above buttocks and suprapubic region)
    2. Transferrin = deficient carbohydrate, Tone is low
    3. Koagulopathy
    4. Inverted
    5. Nipples (and Nystagmus)
    6. Seizures, Stroke-like episodes, Strabismus
  4. “if you have fat above the bum, think CDG-1”
47
Q

Cerebral folate deficiency

Symptoms

Treatment

A

Remeber (3, 4, 5, 6, 7)

  • “at 3 years she lost her vision”
  • “but symptoms started at 4 months with”
    • (5 symptoms)
    • Seizures
    • Microcephaly
    • Spastic paraplegia
    • Cerebellar ataxia
    • Dyskinesia
  • “They found elevated 5-methyltetrohydrofolate in her CSF”
  • By age 6, she couldn’t hear us”
  • Treatment = folinic (7 letters) acid (leukovorin)
48
Q

Glut-1

Onset

Symptoms

treatment

A

AKA DeVivo disease

Onset at four months (“quatro”)

Symptoms

  • Low CSF glucose, but normal lactate
  • abnormal eye movements resembling opsoclonus
  • Microcephaly
  • Apnea

Treatment: Ketogenic diet

“De Vivo, low-gluco, opso, micro, treat with keto, pronto (because of apnea)!”

49
Q

Galactosemia

Inheritance
Defective enzyme
Onset
symptoms (6)

A
  1. AR
  2. Multiple enzymes, but MC (classic) is Galactose-1-phosphate uridyl transferase
  3. onset: hypotonic neonate
  4. other symptoms
    1. hepatomegaly
    2. jaundice
    3. Diarrhea
    4. Vomitng
    5. Cataracts
    6. E-coli sepsis
50
Q

GLUT-1

A

AKA: “devino disease”

“Devino at quatro. Low gluco, opso, micro, treat with Keto, pronto!”

  • Presents at 4 months (“quatro”)
  • Decreased CSF glucose and serum / csf glucose ratio (low gluco)
  • Microcephaly (Micro)
  • abnormal eye movemements resembling opsoclonus
  • Apnea (why its “pronto”)
  • Treat with ketogenic diet
51
Q

lowes syndrome

AKA
Gene / chromosome
features by category:
A (5)
B (7)
C (2)
D (1)

A
  1. AKA occulocerebrorenal cyndrome
  2. Inheritance: X-linked recessive
  3. Mutation in OCRL1 (xq26)
  4. Symptoms
    1. Occulo
      1. bilataeral caeracts
      2. glaucoma
      3. +/- buphthalmos (bulging eyes)
      4. Corneal cheloids
      5. blindness
    2. Cerebro
      1. seizures
      2. developmental regression
      3. myotonia
      4. neuropathy with decreased DTR
      5. obsessive-compulsive-like behavior
      6. MRI
        1. periventricular cysts
        2. Increased signal at periventricular region
    3. Renal
      1. RTA
      2. Renal fanconi syndrome
    4. Bone
      1. can also develop ricketts
52
Q

Palazeus Merzbacher disease (classic form)

Inheritance
Mutation / chromosome
Symptoms

A
  1. X-linked recessive
  2. Proteolipid protein (PLP1) on Xq21-22
  3. Symptoms: “‘Pleaz keep your eyes open for roving tigers, got it?’ (everyone nods)”
    1. Optic atrophy
    2. Roving eye movements
    3. “tigroid” appearance on MRI (hypomyelinating appearnce on MRI)
    4. tremor / head nodding
53
Q

Palazeus-Merzbacher (Connatal form)

Inheritance
How it is different from classic form

A

Most are AR, but some still x-linked

Presents Earlier and progresses faster (die within first decade)

54
Q

Tauri’s Disease

Inheritance
Symptoms (3)

A

Autosomal recessive

  1. Symptoms similar to McArdle’s disease (exercise-induced cramps and myoglobinuria) EXCEPT:
    1. NO second wind phenomenonon
    2. Typically more severe than McArdles (not always)
55
Q

Forearm ischemia test:

Normal results and what disease does this NOT exclude?

Low Lactate

Low Ammonia

A
  1. Normal results
    1. Rise in lactate
    2. Rise in Ammonia
    3. Carnitine Palmitoyltransferase deficiency
  2. Low lactate
    1. McArdles
    2. Tauri’s
  3. Low Ammonia
    1. Myoadenylate deaminase defiency
56
Q

8 months old with lethargy, vomiting, and cardiopulmonary arrest and hypoketotic hypoglycemia:

What disorder do you suspect?
what kind of disorder is it?
Biggest concern
Treatment

A

Medium-chain Acyl-CoA dehydrogenase Deficiency (MCAD)
autosomal recessive
most commmon disorder of Fatty acid oxidation

Hypoketotic hypoglycemia (this can be fatal!)

Treatment
Low fat diet
Carnitine

57
Q

Newborn with hyOthermia and hypERbilirubinemia returns at 3 months with concerns of NAT, found to have exaggerated startle response and seizures.

What exam finding would stop you from calling CPS?
What is the mechanism?
inheritance
other features

A

Menke’s Kinky Hair disease

Disorder of Copper transport

Features: neonate presenting with hypothermia and hyperbili, then at 2-3 months develops seizures, hypotonia, poor feeding, and stimulation induced myoclonus.

Can see Stroke / subdural hemorrhages, Retinal hemorrhages, and rib fractures (can mimic child abuse)

Cherubic face with kinky hair
“wormean bones”

(X-linked recessive)

58
Q

MELAS

full name

Features

A

Mitochondrial encephalopathy with lactic acidosis and stroke-like-episodes

Symptoms:

  • “Me Lass Lucy GIVES it Out for $10 at Carnivals. She’ll run you Ragged”
    • Lucy = defect of Leucine tRNA gene
    • GTC
    • Intolerance for exercise
    • Vomiting
    • Elevated Lactate
    • Short stature and Sensorineuronal hearing loss
    • Occipital distribution for stroke-like episodes (don’t follow vascular distribution)
    • Treatment
      • Coenzyme Q10
      • Carnitine
    • _Ragged-_Red Fibers
59
Q

Baby presents with alternating episodes of diarrhea and pseudoobstruction. also with weakness, ptosis, and ophtamolplegia

What other test could you order to confirm disease and what would it’s finding be?

A

Mitochondrial Neurogastrointestinal encephalomyopathy

EMG (sensorineuronal neuropathy)

60
Q

Multiple Sulfatase deficiency

Inheritance
what is the defect?
What are the symptoms?

A
  1. Sulfatase Modifying Factor -1 gene (SUMF1)
  2. Autosomal recessive
  3. Symptoms: “hunter in the streets, Metachromatic leukodystrophy In the sheets”
    1. Skeletal symptoms similar to Hunters but with Ichthyiosis
    2. Neuronal symptoms similar to metachromatic leukodystrophy
61
Q

MERRF

Full name
Features

A

Myoclonic epilepsy with ragged red fibers

Features: “MERRF lystened to her dad in the movie ‘Interstellar’ when she was small, and saved a LOAD of Nervous Men

  • Mutation in Lysine tRNA
  • short stature
  • Lipomas
  • Optic
  • Atrophy
  • Deafness
  • Neuropathy
  • Myopathy
62
Q

Neimann Pick disease, type C

Inheritance
disorder of ____
Mutation (2) and chromosome (2)
Neonatal presntation
childhood presentation (and age)

A
  1. Autosomal recessive
  2. disorder of Transport of Cholesterol (Type-_C_)
  3. muations
    1. NPC1 (18q)
    2. NPC2 (14q)
  4. Neonatal presentation
    1. hepatomegaly
    2. jaundice
    3. hypotonia
  5. Later (3-8 years) = 6 C’s, 4 D’s
    1. Clumsiness progressing to Ataxia
    2. Cataplexy
    3. Choreoathetosis
    4. “sea”-blue histiocytes and foamy cells
    5. “see” vertical supranuclear ophthalmoplegia
    6. “sei”-zures
    7. Dystonia
    8. Dysphagia
    9. Dysarthria
    10. Dementia
63
Q

Mutation in Pyridoxine dependency, and how it leads to seizures

A

Autosmal recessive mutation in ALDH7A1 leads to deficiency in antiquin

Leads to an accumulation of P6C which causes Pyridoxyl-5-phosphate to precipitate out

This leads to inability to convert Glutamate (excitatory) to GABA (inhibitory)

64
Q

Sialidosis

Inheritance
disease type
defective enzyme
symptoms (main form)
other presentation
common feature between the two

A
  1. Autosomal recessive
  2. Lysosomal storage disorder
  3. Alpha-neurominidase (sialidase)
  4. main presentation: progressive myoclonic epilepsy
  5. Other presentation is similar to Hurler’s but with HSM
  6. Common feature: cherry red spot on macula
65
Q

Tangier disease

Inheritance
Mutation
symptoms (5)
lab findings (3)

A

Autosmal recessive mutation in ATP-binding casset protein 1 gene (ABCA-1) (9q)

Symptoms:

  1. Large, orange tonsils
  2. lymphadenopathy
  3. splenomegaly
  4. Distal upper extremity Sensory neuropathy leading to Atrophy of hand muscles

Lab findings

  1. LOW cholesterol
  2. LOW LDL
  3. VERY LOW HDL
66
Q

Wilson’s disease

Inheritance and mutation
result of mutation

Presentation (if < 10 years)
presentation (if >10 years)

Diagnostic tests (4)

Treatment

A
  1. Autosomal recessive mutation in ATP7B (13q) (adenosine triphosphatase)
  2. Leads to inability to transport copper from hepatocytes into Bile
  3. Symptoms (<10)
    1. Liver disease
  4. Symptoms (>10)
    1. Wing-beating tremor
    2. Kayser-Fleischer ring
    3. Sunflower cataracts
    4. Risus sardonicus (also seen in Tetanus)
  5. Labs
    1. LOW serum ceruloplasmin
    2. LOW serum Copper
    3. HIGH 24 hour urinary copper excretion
  6. MRI = “giant panda face)
    1. Decreased T2 signal in superior calliculi
    2. increased T2 signal in meidla substantia nigra and tegmentum
  7. Treatment = “TRI-DAZ” chelation
    1. TRIethylene Tetramine Dihydrochloride
    2. D. Penicillimine
    3. Ammonium Tetrahiomolybate
    4. Zinc
67
Q

Differences between Menke’s kinky hair disease and Wilson’s disease

A 
Menke's = _alpha_ subunit of ATP-ase \> problem with **_A_**bsorption
Wilsons = _Beta_ subunit of ATP-ase \> problem with **_B_**ile
68
Q

Wolman disease

Inheritance
defective Enzyme
Onset
symptoms

A
  1. Autosmal recessive
  2. Disorder of acid-lipase >> xanthomatous changes to many organs
  3. Onset in Infancy, memnonic = “WOAH Man, Just Calm Down”
    1. Weight loss
    2. hypOtonia
    3. Acid-Lipase and Adrenal Insufficiency
    4. Hepatosplenomegaly
    5. Malabsorption
    6. Jaundice
    7. Calcified adrenal glands
    8. Diarrhea and Developmental Delay
      9.
69
Q

Photosensitivity in HARTNUP disease is due to what?

A

Niacin deficiency

70
Q

potential Trap:

ABCD1 mutation
-Versus-
ABCA1 mutation

A

ABCD1 mutation - adrenal leukodystrophy (xlr)

ABCA1 mutation - Tangier Disease (ar)

71
Q

Diseases with Cherry Red Macula (mnemonic)

A

Farber Salivates Getting cherry-_picked_, half-off sales at S__acks fifth avenue and Neiman marcus

Farber’s disease
Sialidosis
GM1 gangliosidoses
Neiman-Pick
sandhoff (half-off)
Tay-Sachs
Neiman-Pick type A

72
Q

How often should asymptomatic patients with x-linked adrenal leukodystrophy get imaged?

A

Yearly until age 3

then every 6 momths between age 3-12 years

then back to yearly

73
Q

What is this
Trichrome Gomori Stain

A

Ragged red fibers

74
Q

Kearns-Sayres Syndrome

Inheritance
onset
symptoms (2 big + 3 more)

A
  1. Mitochondrial
  2. Onset typically before 20
  3. Symptoms
    1. Chronic progressive external opthalmoplegia
    2. Pigmentary retinopathy
    3. Cerebellar ataxia
    4. proximal muscle weakness
    5. deafness
75
Q

Leigh’s disease

AKA
Arguably same disorder as _____
Inheritance
Features
Treatment (2)

A

AKA: acute necrotiing encephalomyelopathy
Arguably same disorder as: Pyruvate dehydrogenase deficiency
Inheritance: Mitochondrial disorder, but multiple causes (mitochondrial, autosom. rec., X-linked)

Features: Princess LEIGH-A

  • Lactic acidosis, Lack of milestones (developmental delay)
  • Epilepsy / Extraocular movement abnormalities
  • Increased T2 signal in putamen
  • Gag/Vomit
  • Hyperventilation / Hypotonia
  • Ataxia_,_ Apnea

Treatment:

  • ​Ketogenic diet
  • Supplement Leucine and Lycine
76
Q

NARP synrome and related disease

A
  • *N**eurogenic muscle weakness
  • *A**taxia
  • *R**etinitis Pigmentosa

Mitochondria mutation showing heteroplasmy

  • 70-90% NARP
  • 100% leigh syndrome
77
Q

Homocystinuria
inheritance / genes
symptoms

A

Mutliple genes, but all AR (MC = cystathionine B-synthase)
Symptoms

  • Marfinoid features
  • Ectopia Lentis
  • Codfish vertebrae
  • Levido reticularis
  • MR
  • Seizures
  • malar flush
  • thromboembolism
  • myopia

Labs

  • Increased homocysteine in urine
  • increased homocystine and methionine in blood
78
Q

Neiman Pick type A
aka
inheritance
Features
prognosis

A
  1. AKA infantile neuropathic variant
  2. persistent neonatal jaundice
  3. Pulmonary infiltrates
  4. lymphadenopathy
  5. cherry-red spot
  6. foamy macrophages
  7. Rapid neurologc decline
79
Q

Neiman Pick type B

Symptoms (5)

A

Hypersplenism leading to decreased platelets

HSM

ILD

HLD

often survive into adulthood

80
Q

Pompe’s disease

Inheritance
Defective enzyme
Symptoms

  • Infantile
  • Juvenile
  • adult

Test

A

Pompe’s disease

  • Inheritance (autosomal recessive) defect in alpha 1,4-glucosidase or acid maltase

Symptoms (Infantile) - onset 1-2 months

  • Weakness
  • “plumpe’s disease”
    • Macroglossia
    • hepatomegaly
    • cardiomegaly
  • Death from respiratory collapse

Symptoms (juvenile)

  • Diaphragmatic / other respiratory muscle weakness
  • Lower limb weakness

Symptoms (adult)

  • generalized weakness
  • especially muscles of respiration

test = PAS acid schiff (+)

82
Q

Von Girke’s disease

inheritance

defective enzyme

symptoms (3)

A
  1. Autosomal recessive
  2. Deficient glucose-6-phosphatase >> no gluconeogenesis and no free glucose from glycogenolysis
  3. Symptoms
    1. Severe fasting hypoglycemia
    2. high liver glycogen
    3. Developmentla delay from repeated hypoglycemia
83
Q

Cori’s Disease

Inheritance
defective enzyme
Symptoms

A
  1. autosomal recessive
  2. debranching enzyme (lots of unbranched glycogen molecules)
  3. Symptoms
    1. similar to Von-Girke’s but milder in presentation
84
Q

Pyruvate dehydrogenase deficiency

  1. Inheritance (3)
  2. Difficient enzyme
  3. Symptoms
  4. Treatment
A
  1. Autosomal recessive, x-linked, and Mitochondiral
  2. …look at the name
  3. Symptoms
    1. Lactic acidosis with normal pyruvate / lactate ratio
    2. neurodevelopmental problems
    3. early death
  4. Treatment
    1. Ketogenic diet
    2. supplementation of Lysine and leucine
85
Q

Phenylketonuria

  1. Inheritance
  2. deficient enzyme
  3. Symptoms (2)
  4. Treatement (2)
A
  1. Autosomal recessive
  2. reduced activity of phenylalanine hydroxylase
    1. > tyrosine becomes essential
    2. > phenylalanine accumulates and is converted into phenylketone, excreted in urine, hence the name
  3. Symptoms
    1. Developmental delay
    2. seizures
  4. Treatment
    1. Low pHe diet
    2. protein supplementation
86
Q

Hunters / Hurlers

Inheritance

Enzymes

Symptoms (4 each)

A

Hunters

  1. Inheritance = x-inked recessive
  2. Deficient enzyme: iduronate sulfatase
  3. Symptoms
    1. (mild versus hurlers)
    2. Gargolysm
    3. HSM
    4. Developmental delay

Hurlers

  1. Inheritance: autosomal recessive
  2. deficient enzyme: B-L-iduronidase
  3. Symptoms
    1. Gargolysm
    2. HSM
    3. Developmental delay
    4. Corneal Clouding
87
Q

Lesh-Nyhan Disease

Inheritance
AKA
Symptoms (5)

A
  1. X-linked recessive
  2. hypoxanthine guanine phosphoribsyltransferase defiicnecy (Xq26)
    1. Normal at birth
    2. Hypertonia (often mis-diagnosed as CP)
    3. delayed milestones
    4. aggressive behavior
    5. self-mutilation (biting of fingers, lips, and cheeks)
88
Q

How would you treat this patient?

A

Wilson’s disease = TRI-DAZ chelation

  • Triethylene tetramine Dihydrochloride
  • D. Penicillamine
  • Ammonium tetrathiomolybdate
  • zinc
  • Chelation
89
Q

Gold standard for diagnosis Wilson’s disease

A

Hepatic copper concentration (>250 mcg/gram

90
Q

Patient presents with loss of central vision, optic nerve atrophy first affecting one eye, then spreading to the other. He is subsequently found to have an inherited condition.

What findings would you see on fundoscopy?

How would you treat it?

A

Fundoscopy:

  • vascular tortuosity of retinal vessels
  • hyperemia of optic disc
  • Peripapillary telangiectasias

Treatment:

  • idebenone
91
Q

(Working list)

Baby presenting with “opisthotonus” what items are on differential?

A

Maple syrup urine disease

Glutaric acidura type I

Canavan’s disease

92
Q

neonatal seizure patient with lense dislocation

what is the disorder?
what is the defective enzyme?
what is causing the lense dislocation?

A
  1. what is the disorder?
    Sulfatite oxidase deficiency
  2. what is the defective enzyme?
    molybdenum cofactor deficiency
  3. what is causing the lense dislocation?
    caused by bildup of s-sulfacysteine
93
Q

Mucopolysaccharidoses:

  1. Inheritance
  2. Diseases with Mental Retardation (4)
  3. disease with normal intelligence (4)
A
  1. All are automal recessive except Hunters (x-linked)
  2. Diseases with MR
    1. Hurler
    2. Hunter
    3. Sanfilippo
    4. Sly
  3. Diseases with normal intelligence
    1. Scheie
    2. Hurler-Scheie
    3. Morquio
    4. Maroteaux-Lamy
94
Q

Mucopolysaccharidoses:

  1. Defective enzymes (4 most common)
  2. Common histologic buzzword
  3. Neurosurgical complication they are at risk for and why
A
  1. Defective enzymes (most common)
    1. alpha-L-iduronidase (hurler, sheie, and hurler-scheie)
    2. iduronate slfatase (hunter)
    3. Galactose-6-sulfatase (morquio
    4. Hyaluronidase (sly)
  2. Common histologic buzzword
    1. Zebra bodies (intralysosomal inclusion bodies)
  3. At risk for obstructive hydrocephalus or cervical cord compression due to skeletal deformities
95
Q

AADC deficiency

What does the name stand for?
What is the core issue?
Age of onset?
Symptoms + how to confirm diagnosis

A

Aromatic-L-Amino Acid Decarboxylase deficiency

Core issue = Can’t produe Dopamine and Serotonin

Mnemonic for Symptoms and diagnosis= AAAADDCC
Ataxia
Athetosis
Axial hypOtonia (but limb hypERtonia)
Autonomic Dysfunction
Dystonia/torticollis
C(see) ptosis and occulogyric crisis
increased CSF neurotransmitters

96
Q

(working list)

Diseases presenting with ichthiosis (3)

A

Sjogren Larson syndrome

multiple sulfatase deficiency

refsum disorder

97
Q

11 month old with opisthotonis has this on histology

What is this?

What is the diagnosis

what is the defficient enzyme

A

Globoid cell (Krabbe)

Defect of galactosylceramidase

Peds neuro boards, V2 (29 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions