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RACP Paeds Written Exam > Metabolics > Flashcards

Metabolics Flashcards

1
Q

Child presents to outpatient clinic with severe ID, hyperactivity, widely spaced teeth with enamel hypoplasia and gets teased at school for smelling musty. Normal at birth and started regressing at a few months of age. Dx?

A

Phenylketonuria

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2
Q

Mx of PKU?

A

Low phenylalanine diet

Large neutral amino acid supplements (competes against phenylalanine for transport)

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3
Q

Child presents with fever, vomiting, myalgia and hypotonia of the trunk and neck. On exam tender hepatomegaly and smells like cabbage. VBG shows acidosis with hypokalaemia and hypochloraemia and low glucose. LFTs transaminase derangement. What dx?

A

Tyrosinaemia Type 1/ Hereditary Tyrosinaemia

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4
Q

Investigation of choice for tyrosinaemia?

A

Serum and urine succinylacetone

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5
Q

Management of tyrosinaemia?

A

Low phenylalanine and tyrosine diet

Nitisone (competitive enzyme inhibitor)

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6
Q

Tall, lanky, dev delayed child presents with ectopia lentis. What dx?

A

Homocysteinuria

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7
Q

Pathophysiology of homocysteinuria?

A

Inborn error of methionine metabolism

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8
Q

Ix for suspected homocysteinuria?

A

Plasma total homocysteine level
Methionine level
Genetic test (mutation in CBS gene)

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9
Q

Management of homocystenuria?

A

High dose B6 (60% responsive) and folate supp

Methionine restricted diet

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10
Q

Infant brought into ED D4 of life with poor feeding, lethargy and admitted for observation. Hypertonic and back arching with slow writhing limb movements, then had a seizure.
Normal glucose, normal ammonia and normal VBG but urine dip has ketones +++. What dx?

A

Maple syrup urine disease

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11
Q

What further ix if suspected MSUD?

A

DNPH testing of urine
Plasma brach chain amino acids (raised)
Urine alpha-hydroxyacids and alpha-ketoacids (raised)

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12
Q

School age child presents with severe ketoacidosis, currently being treated w amoxil by GP for pneumonia. Rapidly deteriorates with ataxia, lethargy and has a seizure. What dx?

A

Intermittent Maple Syrup Urine Disease

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13
Q

Management of MSUD?

A

Diet low in BCAAs - reduce natural protein, BCAA free formula for infants
Dialysis to remove metabolites
Liver transplant

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14
Q

2week infant with sepsis like illness and metabolic acidosis with widened anion gap and high ammonia level, pancytopenia. What family of metabolic diseases?

A

Organic acidaemias

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15
Q

Treatment principles for organic acidaemias?

A

Low protein diet
Enhance enzyme activity w B12/biotin
Carnitine supp - binds to organic acids for excretion

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16
Q

Child with sweaty feet and episodes of vomiting, ketoacidosis and neutropenia/thrombocytopenia?

A

Isovaleric acidaemia

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17
Q

Cause of isovaleric acidaemia?

A

Deficiency of isovaleryl coenzyme A dehydrogenase

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18
Q

Week old infant with ketoacidosis and lethargy?

A

Proprionic acidaemia

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19
Q

Cause of proprionic acidaemia?

A

Proprionyl co-A carboxylate deficiency

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20
Q

Newborn with microcephaly, retinopathy, hydrocephalus. Metabolic acidosis on gas with high anion gap. Organic acids in urine?

A

Methylmalonic acidaemia

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21
Q

Treatment for methylmalonic acidaemia?

A

High dose B12
Suppress enzyme producing bacteria in GIT - metronidazole
Biotin (propionic acid)

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22
Q

4mo infant presents with developmental regression, seizures, progressive head enlargement. MRI B demonstrates diffuse subcortical and periventricular white matter abnormalities?

A

Canavan disease (aspartic acidaemia)

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23
Q

Older infant presents with micro encephalic microcephaly, ketoacidosis with high ammonia, hypoglycaemia and dystonic movements?

A

Glutaric acidaemia

24
Q

Male baby presents with vomiting and lethargy. High ammonia, respiratory alkalosis, deranged LFTs and coagulopathy?

A

OTC deficiency

25
Q

Inheritance and pathogenesis of OTC deficiency?

A

X-linked deficiency of OTC enzyme
Ammonia+glutamate = glutamine causing cerebral oedema
Direct effects on neurotransmission and cerebral energy metabolism

26
Q

Management of OTC deficiency?

A

Low protein diet (decrease substrate)
High calorie diet (promote anabolism)
Arginine/citrulline supp (replace metabolites)
Sodium benzoate (binds to toxic metabolites)
Haemofiltration
Liver transplant

27
Q

2yo child presents with hypoglycaemia during period viral URTI w no PO intake. Ketones low. Carnitine deficiency and high medium chain fatty acids?

A

Medium chain Acetyl-CoA Dehydrogenase Deficiency (MCADD)

28
Q

Inheritance of and gene assoc a MCADD?

A

AR mutation of ACADM gene resulting in mutation to enzyme responsible for oxidising MCDA to acetyl-CoA

29
Q

3yo child presents with progressive cardiomyopathy and skeletal muscle weakness. Recently turned vegan, now has low ketones with hypoglycaemia?

A

Carnitine deficiency

30
Q

6yo boy presents with behaviour change, poor school performance that progressed to ataxia and seizures. Ix show adrenal insufficiency and MRI demonstrates white matter abnormalities?

A

X-Linked Adrenoleukodystrophy

31
Q

Genetics & pathogenesis of adrenoleukodystrophy?

A

X-linked
Mutation in ATPbinding cassette ABCD1 resulting in accumulation of unbraced very long chin fatty acids in neural tissue and adrenals.

32
Q

Mx of adrenoleukodystrophy?

A

Steroid replacement for adrenal insufficiency
Diet low in very long chain fatty acids
Erucic acid
Immune modulation/BMT/?gene therapy

33
Q

Newborn presents with FTT, hypotonia, hepatomegaly, cataracts. What dx?

A

Zellweger syndrome

34
Q

Genetics of Zellweger?

A 
AR
Peroxisome (PEX gene) unable to import proteins
35
Q

Infant presents with ataxia, dev delay, sensory-neural hearing loss and a rash. US KUB incidentally found small hypo plastic adrenals?

A

Refsum

36
Q

Genetics of Refsum?

A

Inability to degrade phytanic acid

PEX 1/6/7 mutation

37
Q

Toddler presents with FTT, microcephaly. Has webbed 2-3 toes and ambiguous genitalia. Hx of pyloric stenosis, cleft palate repair and also has an ASD. Dx?

A

Smith-Lemli-Opitz

38
Q

Genetics of Smith-Lemli-Opitz?

A

AR

7-DHC deficiency causing abnormal cholesterol metabolism and low cholesterol

39
Q

Inheritance of mucopolysaccharidoses?

A

All AR except MPS II (X-Linked)

40
Q

Ix for mucopolysaccharidoses?

A

Increased urinary GAGs
GAGs on electrophoresis
Skeletal survey - dysostosis multiplex

41
Q

Jewish child presents with anaemia/thrombocytopenia, bone pain, lytic lesion of femur/osteonecrosis and hepatomegaly. You do a BMA ?leukaemia and it shows cells that look like wrinkled tissue paper?

A

Gaucher disease

42
Q

Pathogenesis of Gaucher?

A

Enzyme deficiency of glucocerebrosidase

Leads to accumulation of toxic metabolites in spleen, liver and bone marrow

43
Q

Pathogenesis of GM1 ganliosidoses?

A

AR

Deficiency of beta-galactosidase

44
Q

Ashkenazi Jewish baby - exaggerated startle response, dev regression at 6mths, cherry red spot on macula.

A

Tay-Sach’s / GM2 gangliosidoses

45
Q

Pathogenesis of Tay-Sachs?

A

AR

HEXA gene mutation on 15q

46
Q

Baby dev regression, blindness, doll like face and cardiomyopathy?

A

Sandhoff / GM2 ganliosidoses

47
Q

Pathogenesis of Sandhoff?

A

AR

HEXB mutation on 15q

48
Q

Hoarse voice with swollen/painful joints and lipogranulomas?

A

Farber Disease

49
Q

Mucopolysaccharide disease and melanocytes naevi?

A

Hurler’s Syndrome

50
Q

Dev delay, hypo pigmentation and eczema?

A

PKU

51
Q

15mo with inability to walk, hyper-extensibility of knee and absent reflexes. MRIB shows symmetrical periventricular white matter change?

A

Metachromatic leukodystrophy

52
Q

Congenital cataracts and prolonged jaundice?

A

Galactoseaemia

53
Q

Cherry red macula and dev regression?

A

Tay-Sachs

54
Q

Recurrent sinopulmonary infections, dev delay and hepaosplenomegaly?

A

Hurler’s

55
Q

Dev delay, dystonia, self-mutilating behaviour?

A

Lesch-Nyhan

RACP Paeds Written Exam (15 decks)

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