Neurology Board Review > Metabolic Disorders (complete) > Flashcards

Metabolic Disorders (complete) Flashcards

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1
Q

Rett Syndrome

A

MECP-2
Females
Regression, severe intellectual disability
Arrested head growth
Central apnea and hyperventilation
Intractable epilepsy
Arrhythmias

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2
Q

Fragile X

A

Most common cause of intellectual disability
>5% of ASD in males
X linked triplet repeat (CGG)
>200 repeats on FMR1 Gene
Famhx of females with ovarian insufficiency
Male >50 yo w/ tremor
Can have progressive cerebellar ataxia

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3
Q

CGG repeat

A

Fragile X

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4
Q

CTG repeat

A

Myotonic dystrophy

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5
Q

CAG repeat

A

Kennedy’s disease (androgen receptor antibody)
SCA
Huntington’s disease
Dentatorubral-pallidouysian (DRPLA)

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6
Q

GCG repeat

A

Oculopharyngeal muscular dystrophy

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7
Q

15q11.2q.13.1 imprinting, deletion or uniparental disomy

A

Prader Willi
Angelman

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8
Q

15q11.2q.13.1 paternal copy absent

A

Prader Willi

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9
Q

15q11.2q.13.1 maternal copy absent

A

Angelman

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10
Q

Prader Willi Phenotype

A

Hypotonia and FTT in infancy
Rapid weight gain between 1-6 yo
Hyperphagia
Developmental delay
Hypogonadism
Small stature and small hands, almond shaped
Behavioral issues

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11
Q

Angelman Phenotype

A

Developmental delay
Severe ID
Seizure w/ 2-3 Hz high amplitude slow wave on EEG
Ataxia
Inappropriate happy demeanor (happy puppet)
Wide spaced teeth/prognathism

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12
Q

UBE3A gene

A

Angelman

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13
Q

Chromosome 5p deletion

A

Cru-di-chat syndrome

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14
Q

Cru-di-chat syndrome phenotype

A

Microcephaly, micrognathia, small hands
Severe ID, delays, poor feeding, drooling (laryngeal issues)

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15
Q

DiGeorge/Velocardiofacial chromosome

A

22q11.2 deletion

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16
Q

Symptoms of DiGeorge;

A

Cono-truncal malformation
Palatal abnormalities and velopharyngeal incompetence (VPI)
Immune deficiencies
Hypocalcemia
Learning disabilities, speech delay, seizures, hearing loss, behavioral disturbances

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17
Q

CATCH 22 of DiGeorge

A

Cardiac Abnormality, T-cell defect, Clefting, Hypocalcemia

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18
Q

Chromosomal abnormality for Williams Syndrome?

A

Chromosome 7q, includes gene encoding Elastin → connective tissue

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19
Q

Symptoms of Williams Symptoms:

A

Hypotonia, hyperflexible joints
Hypercalcemia
Cardiac: supravalvular aortic stenosis

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20
Q

X-linked dominant disorders:

A

Rett syndrome
Aicardi Syndrome
X-linked lissencephaly
Periventricular nodular heterotopia due to FIL-1 gene mutation

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21
Q

Fabry’s disease genetics and enzyme deficiency:

A

X-linked recessive
Deficiency of alpha galactosidase A

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22
Q

What are the symptoms of Fabry’s disease?

A

Recurrent attacks of burning pain in distal extremities (acroparesthesias) exacerbated with heat, fever and exercise
Autonomic instability
Cardiomyopathy, stroke, aneurysm, corneal deposits
Angiokeratomas

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23
Q

Farber’s enzyme deficiency:

A

Ceramidase

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24
Q

Sandhoff enzyme deficiency:

A

Hexosaminidase A and B

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24
Niemann-Pick enzyme deficiency:
Sphingomyelinase
24
Gaucher enzyme deficiency:
Beta glucosidase
25
Krabbe enzyme deficiency:
Galactosylceramide beta galactosidase = galactocerebrosidase Globoid cell (PAS +ve) in white matter
26
Metachromatic leukodystrophy enzyme deficiency:
Arylsulfatase A
27
Tay Sachs enzyme deficiency:
Hexosaminidase A
28
Characteristics of Faber's disease:
Arthropathy and subcutaneous nodules Cherry red spot
29
Diseases that will have Ashkenazi jews mentioned in the vignette;
Gaucher Nieman Pick Tay Sachs
30
Characteristics of Gaucher's disease?
Gaucher cells→ histiocytes with lipids (PAS +ve) Spasticity, seizures, rigidity, **Hepatosplenomegaly**
31
Gauchers type __ will generally die before age 2.
2
32
Features of Gaucher's disease?
Foamy histiocytes, jaundice and hepatomegaly
33
Tay Sachs Disease characteristics?
No visceral (foamy neurons) Increased startle response Death at 5 years
34
Sandhoff disease characteristics?
Mild hepatosplenomegaly Pan-ethnic Death at 3 years Coarse granulation in histiocytes (sand)
35
What diseases present with a cherry red spot?
Farber Sialidosis GM1 gangliosidosis Sandhoff Tay-Sachs Niemann Pick A
36
Krabbe disease, also known as ___
Globoid cell leukodystrophy
37
What are the symptoms of Krabbe disease?
Regression, blindness, hypotonia and deafness Progressive demyelinating peripheral neuropathy → lost reflexes+Babinski
38
MRI findings of Krabbe disease:
FLAIR hyperintensity in basal ganglia, thalami, corona radiata, brainstem and cerebellum
39
What are the symptoms of cerebral folate deficiency?
Irritability, loss of vision, spasticity and hearing | Reduced 5-methyltetrahydrofolate. Treatable with folinic acid
40
If there is an arylsulfatase A deficiency, what does this cause?
Myelin breakdown
41
What are the types of Mucopolysaccharidosis? (6 total, skip V)
I. Hurler II. Hunter III. Sanfilippo IV. Morquio VI. Maroteaux-Lamy VII. Sly
42
Deficiency in Hurlers?
Alpha iduronidase
43
Deficiency in Hunters?
Iduronate sulfatase
44
Deficiency in Sanfilippo?
Heparan sulfate
45
Deficiency in Morquio?
Galactose-6-sulfatase (Keratan sulfate)
46
Deficiency in Maroteaux-Lamy?
N-acetylgalactosamine, arylsulfatase B (Dermatan sulfate)
47
Deficiency in Sly?
Hyaluronidase
48
All of the mucopolysaccharidosis are autosomal recessive except ____.
Hunter (which is also the only one without corneal clouding)
49
What are common features of mucopolysaccharidosis?
Coarse features and skeletal abnormalities (dysostosis multiplex) Hepatomegaly, OSA, hearing loss Zebra bodies in the lysosomes
50
Treatment for mucopolysaccharidosis:
Bone marrow transplant and enzyme replacement
51
Aminoacidopathies: Branched amino acids
Maple Syrup Urine Disease
52
Aminoacidopathies: Neutral amino acids
Hartnup disease (Niacin)
53
Aminoacidopathies: Sulfated amino acids
Molybdenum cofactor deficiency Lens dislocation
54
Aminoacidopathies: Methionine metabolism
Homocystinuria
55
Aminoacidopathies: Glycine metabolism
Glycine encephalopathy (nonketotic hyperglycinemia)
56
Aminoacidopathies: Phenylalanine
Phenylketonuria
57
McArdle disease
Glycogen storage disease IV
58
Carnitine palmitoyl transferase deficiency I
Fatty acid oxidation defect
59
What are the periodic paralysis?
Hypokalemia Hyperkalemia Andersen Tawil syndrome
60
Metabolic diseases with macrocephaly
Glutaric aciduria type I Tay Sachs disease Alexander disease Canavan disease
61
Metabolic diseases with skin rash
Abetalipoproteinemia PKU Biotinidase Hartnup disease Refsum disease Fabry’s
62
Inheritance and genetics of Wilson's disease:
Autosomal recessive (ATP7B)
63
Pathogenesis of Wilson's disease:
Copper transportation defect from hepatocyte to bile
64
Symptoms of Wilson's disease:
Liver failure Psychiatric symptoms Wing beating tremors Kayser Fleischer rings Sunflower cataract
65
MRI findings of Wilson's disease:
Increased signal in superior colliculi, medial substantia nigra and tegmentum Panda sign
66
What test can you do for Wilson's disease and what would those show?
Copper -> decreased Ceruloplasmin -> decreased 24 hr copper excretion -> increased
67
Treatment for Wilson's disease:
Chelation
68
What is the pathogenesis of Menkes? And genetics?
Failure to absorb copper from GI Copper transporting ATPase (ATP7A)
69
How does Menkes present?
Stimulation myoclonus, hypotonia, regression, poor feeding Kinky hair, vasculopathy **Can look like child abuse**
70
What test can you do for Menkes disease and what would those show?
Copper -> decreased Ceruloplasmin -> decreased 24 hr copper excretion -> decreased
71
Treatment for Menkes:
Copper supplementation
72
What happens in Pantothenate Kinase-Associated Neurodegeneration (PKAN)?
**Brain iron accumulation**
73
What is the mutation found in PKAN?
Mutation of pantothenate kinase gene (PANK2) Ch 20p13
74
Presentation of PKAN
Dysarthria, spasticity, choreoathetosis, pigmented retinopathy, equinovarus deformity
75
Imaging in PKAN
Globus pallidus increased signal (eye of the tiger)
76
This autosomal recessive enzyme deficiency causes glycogen accumulation in lysosomes in organs, especially heart, muscle, and CNS
Acid α-glucosidase deficiency (Pompe disease) Glycogen storage disease type II or acid maltase deficiency
77
Gene mutation in pompe disease
GAA gene
78
Pathology of Pompe's disease
PAS+ glycogen-filled lysosomes (vacuolar myopathy) on muscle biopsy
79
Treatment for Pompe's disease
Enzyme replacement with alglucosidase alfa
80
How does GLUT-1 present?
Refractory seizures in an infant with developmental delay, microcephaly, hypotonia, spasticity, ataxia, and dystonia
81
Genetics of GLUT-1
Mutation in SLC2A1: GLUT-1 deficiency, and thus unable to transport glucose into the brain, which results in low CSF glucose, while lactate is low-normal
82
Treatment for GLUT-1 deficiency
Ketogenic diet
83
What is galactosemia a deficiency of?
Galactose 1-phosphate uridyl transferase
84
Galactosemia symptoms
Intellectual disability, cataracts, failure to thrive, increased ICP, cerebral edema Susceptible to E. coli infections
85
Treatment for galactosemia
Eliminate lactose and galactose from the diet
86
What is the molecular course of phenylketonuria (PKU)?
Phenylalanine hydroxylase deficiency → phenylalanine (Phe) and derivatives build up → neuron death
87
Symptoms of PKU
Delayed developmental, short stature, intellectual disability, mouse-like musty odor, possible seizures
88
Symptoms of Kearns-Sayre syndrome
- Chronic progressive external ophthalmoplegia - Retinitis pigmentosa - Onset before 20 years of age
89
What is the cause of Glutaric acidemia type I (GA 1)?
Deficiency of mitochondrial enzyme glutaryl-CoA dehydrogenase activity
90
Symptoms of Glutaric acidemia type I?
Progressive macrocephaly, striatal necrosis, basal ganglia and frontotemporal degeneration
91
What labs will be elevated by Glutaric acidemia type I?
Serum GA, 3HGA, tGA
92
How does methylmalonic acidemia (MMA) present?
Presents in infancy (after proteins added to diet) with developmental delay, lethargy, hypotonia, hepatomegaly, coma, and sometimes death
93
What structure an be damaged in MMA?
B/l destruction of the globus pallidus
94
What mutation causes maple syrup urine disease?
Mitochondrial branched-chain α-ketoacid dehydrogenase deficiency
95
How does MSUD present?
Poor feeding, opisthotonic posturing, hypertonia, failure to thrive, and seizures Urine with maple syrup scent
96
How does biotinidase deficiency present?
Alopecia, skin rash, developmental delay, visual/hearing impairment, and seizures
97
Treatment for biotinidase deficiency
Responds to high doses of oral biotin (vitamin B7)
98
Presentation for X-linked adrenoleukodystrophy
Childhood (4–8 years old) or adult form, with rapidly progressive ataxia, spasticity, personality change, visual/auditory deficits, and seizures
99
Mutation in x-linked adrenoleukodystrophy
ABCD1 gene/protein mutation → impaired peroxisomal β-oxidation → accumulation of very-long-chain fatty acids
100
What is Zellweger's syndrome due to?
2/2 to peroxisomal dysfunction due to a PEX gene mutation
101
Presentation of infantile form of Zellweger syndrome
Hypotonia, craniofacial dysmorphisms, glaucoma, and sensorineural hearing loss
102
Symptoms of homocystinuria
Myopia, dislocation of the lens at the front of the eye (lens subluxation), increased risk of blood clotting, osteoporosis, sometimes developmental delay/learning issues
103
Gene mutation in homocystinuria
CBS gene (cystathione-β-synthase)
104
Treatment for homocystinuria
Low protein diet, Vitamin B6, and betaine, folate (B9), and cobalamin (B12)

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