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good paeds > Metabolic > Flashcards

Metabolic Flashcards

1
Q

Toxic molecule disorder meds

A

Benzoate and phenylbutyrate

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2
Q

Treatment hurler disease (MPS1)

A

Laronidase

Stem cells

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3
Q

MPS1 (hurler) vs 2 (hunter) vs 3 (San sanfilipo)

A

Hunter is x linked (boys) and no Corneal clouding (cf 1)

3 no course features and no HSM with heparan sulphate only in urine

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4
Q 
Infantile spasms (movement disorder) and regression
Typical MRI (loss myelination)
A

Think Leigh disease

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5
Q

Red flags for metabolic disease

A

Multi system especially neurological
Episodic
Triggered by foods, illness, exercise
FHx

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6
Q

Lesch-Nyhan is

A

Juvenile gout

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7
Q

Pantothenate kinase-associated neurodegeneration (PKAN)

A

Brain iron accumulation

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8
Q

Mucopolysaccharidoses

A

Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes

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9
Q

What is glycolysis

A

Break down of glucose to pyruvate

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10
Q

High anion gap acidosis

A

Organic acidaemia

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11
Q

Ammonia and urea cycle defects

A

Toxic to brain and causes respiratory centre in brain causes hyperventilation and respiratory alkalosis

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12
Q

Recurrent hypoglycemia associated with intercurrent illness in the absence of
metabolic acidosis or other electrolyte imbalances is suggestive of…

Severe untreated can cause..

A

Recurrent hypoglycemia associated with intercurrent illness in the absence of
metabolic acidosis or other electrolyte imbalances is suggestive of carnitine
deficiency.
Untreated carnitine deficiency can result in irreversible cardiomyopathy and
skeletal muscle dysfunction.

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13
Q

Vomiting lethargy and hypoglycaemia with fasting could be..

A

MCAD

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14
Q

Bone, lung, HSM (big spleen) in which disorder

Variable neuro depending on type

A

Gaucher
Type I: impaired olfaction and cognition
Type II: serious convulsions, hypertonia, mental retardation, and apnea
Type III: muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia

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15
Q

Presents with FTT, fatty stools and on exam Acanthocytosis blood film, Retinitis pigmentosa, Hypocholesterolemia/low blood cholesterol in which syndrome

A

Abetalipoproteinemia

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16
Q

REtinitis pigmentosa combined with ophthalmoplegia, dysphagia, ataxia, and cardiac conduction defects is seen in ??

A

A mitochondrial DNA disorder Kearns-Sayre syndrome (also known as Ragged Red Fiber Myopathy)

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17
Q

Carnitine used in treatment of which metabolic disorders

A

Carnitine (binds to and helps excrete
organic acids)

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18
Q 
Born normal
Severe early (within 6m) Dev regression and FTT

AR trait family history may be present

On exam have HSM, cherry red spot eye exam

Diagnosis?

A

Neimann-pick A
(deficient acid sphingomyelinase - low on testing lysosomal enzyme chr 11 therefore the protein accumulates)
B - like A but has pulmonary involvement

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19
Q

Treatment of GLUT-1 transporter disorder

A

Treat with the ketogenic diet 3-4:1 ratio

OR regular complex carbs plus oral ketones

20
Q

Newborn screening includes

A 
PKU
• Hypothyroidism
• CAH (not in Australia)
• CF
• Galactosaemia (not Victoria)
• Expanded Newborn Screening: tandem 
mass spectrometry: FAOD’s, MSUD, 
some amino/organic acidemias
• SCID, ALD, MPS and others coming….
21
Q

Hurler treatment

A

Bone marrow transplant
• Enzyme replacement therapy
• Palliative (skeletal, cardiac, carpel
tunnel, behavioural)
• Prenatal testing is available

22
Q

Presents with rigidity, dysarthria, dystonia
retinitis pigmentosa, progressive mental retardation, cognitive impairment, spasticity, tremors

Increased deposition of what in what syndrome?

A

Iron

Pantothenate kinase-associated neurodegeneration

23
Q

Ectopia
lentis, tall stature
(marfinoid), thrombotic
Metabolic disease?

A

Homocystinuria

24
Q

Early: Liver dysfunction. Renal tubular, cataracts.
Late: neuro and ovarian failure
Which disorder?

A

Galactosemia

25
Q

Addisons like sx and neuro disease with characteristic MRI changes

A

Adrenoleukodystrophy

26
Q

Even with mamanagemnt are people with PKU growth and development affected

A

Yes

27
Q

Urinary glycosaminoglycans increased in which diseases

A

Lysosomal storage (not Neimann pick - diagnosed through white cell lysosomal enzyme levels sphingomyelinase)

28
Q

Misty odour blonde blue eyes child normal at birth and then delayed, vomiting some eczema ? Cause

A

PKU

29
Q

High succinylacetone in serum and urine diagnosis and treatment

A

Tyrosinaemia type 1

Tx: nitisinone

30
Q

Number of metabolic disorders screened for in NZ

A

28

31
Q

Manage Leigh disease with

A

Thiamine

32
Q

Self injurious behaviour (biting lips) occurs with?

A

Lesch-Nyhan

33
Q

Coma 3 days old
unable to break down the amino acids leucine, isoleucine and valine
Ketoaciduria

A

Maple syrup urine disease

34
Q

Necrotic areas in CNS (looks similar to MS)

A

Leigh syndrome

Mitochondrial disorder

35
Q

4 month old weak floppy with cardiomegaly (dilated cardiomyopathy)?

A

Pompe

Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. The enzyme normally breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells.

Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, which allows this sugar to build up to toxic levels in lysosomes. This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.

36
Q

FTT and thromboembolic stroke can be presentation of

A

Homocysteinuria

37
Q

Long bones Erlenmeyer flask appearance

A

Gauche

38
Q

Hypersegmented neuts in

A

Folate deficiency

39
Q

1 week old. Cataracts, vomiting since breast fed, E. coli sepsis with galactose-1-phosphate uridyl assay dx

A

Galactosaemia

40
Q

Coarse fancies and hypoplasia Odontoceti process neck bones?

A

MPS VI or morquios syndrome

41
Q

OTC deficiency is what kind of metabolic disorder

A

Urea cycle defect

42
Q

Wrinkles tissue paper on cytomplasm in?

A

Gaucher disease

43
Q

Foamy macrophages in?

A

Niemann-Pick disease

44
Q

Boy with corneal opacity, decreased sweating and angiokeratomas on skin has?
(Can have vascular disease of kidney heart and brain too)

A

Fabry disease

Vascular glycosphingolipid deposition

45
Q

Normal at birth prolonged jaundice then at 3 years degenerative and mild HSM
Specific sign is vertical supranuclear gaze palsy

Positive NPC gene

Other test and diagnosis?

A

Filipin stain positivity in cultures fibroblasts

Neiman-Pick C

good paeds (19 decks)

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