Metabolics

Question 1

What metabolic condition can present with just cataracts?

Answer 1

Galactokinase deficiency

Question 2

What complication do females with galactosaemia get?

Answer 2

Ovarian failure

Question 3

How many kilocalories of fat, protein and carb per gram?

Answer 3

Protein 4kcal/gram
Carb 4kcal/gram
Fat 9kcal/gram

Question 4

What is the treatment for adrenoleukodystrophy?

Answer 4

Bone marrow transplant

Question 5

What inheritance pattern occurs in adrenoleukodystrophy?

Answer 5

X-linked

Question 6

What is the management for a child with GLUT1 transporter deficiency?

Answer 6

Ketogenic diet 4:1 ratio or regular complex carbs plus oral ketones

Question 7

Child with increasing visual problems. He is tall and has mild learning problems. Eye exam reveals ectopic lentis. What is the condition and the complication you try to prevent with treatment?

Answer 7

Homocystinuria and thrombosis

Question 8

Baby with poor feeding, lethargy and severe encephalopathy. Normal blood gas. What condition does this baby likely have?

Answer 8

MSUD

Question 9

Baby presenting day 4 with vomiting and poor feeding. Severe metabolic acidosis on blood gas with raised ammonia. Likely diagnosis?

Answer 9

Organic acidemia

Question 10

Three year old with gastroenteritis went to bed without dinner and then found the following morning unresponsive in his bed. Hypoglycaemia with no ketones. Likely diagnosis?

Answer 10

Fatty acid oxidation defect

Question 11

Hepatosplenomegaly, anaemia, thrombocytopenia, fatigue, boney pain and poor growth.
Wrinkled paper appearance on bone marrow biopsy.

Answer 11

Gaucher disease

Question 12

X-linked condition caused by absent/deficient activity of the lysosomal enzyme alpha galactosidase A = lipid build up
Burning pain worse with exercise and heat, Angiokeratomas, anhidrosis, abdominal pain, corneal dystrophy.
If left untreated can cause renal and heart failure.

Answer 12

Fabry Disease

Question 13

Lysosomal storage disorder that has autosomal recessive inheritance. Features include coarse facial features, short stature, clouding of the corneas, predisposition to hernias, hepatosplenomegaly, intellectual disability, dysostosis multiplex, frequent respiratory/sinus infections and cardiomyopathy.

Answer 13

Hurler Syndrome - Caused by deficiency of alpha L iduronidase

Question 14

Lysosomal storage disorder that has X-linked inheritance. Features include coarse facial features, hepatosplenomegaly, dysostosis multiplex, neurocognitive decline, deafness and pearly papule.

Answer 14

Hunter Syndrome caused by deficiency in iduronate 2 sulfatase (IDS)

Question 15

Which lysosomal storage disorder has significant CNS degeneration?

Answer 15

Sanfillipo syndrome (MPS Type 3)

Question 16

Baby presents with vomiting, lethargy, eczema with mousey/musty smell.

Answer 16

PKU

Question 17

What is the treatment for gaucher disease?

Answer 17

Enzyme therapy with IV glucocerebrosidase

Question 18

Three month old with hyperacusis, exaggerated startle, developmental regression, hypotonia, hyperreflexia, seizures and cherry red spot seen on eye exam.

Answer 18

Tay Sachs disease - Decreased serum hexosaminidase A due to HEXA mutation

Question 19

Motor dysfunction resembling CP, cognitive/behavioural disturbance, hyperuricaemia and persistent self-injurious behaviour.

Answer 19

Lesch-Nyhan disease

Question 20

Hypotonia, subdural haemorrhage, wormian bones and seizures.

Answer 20

Menkes disease - Low copper, test serum copper and caeruloplasmin

Question 21

Encephalopathy, moderate hepatomegaly with a nappy odour resembling sweaty feet.

Answer 21

Isovaleric acidemia

Question 21

What is the mutation responsible for McArdle Disease

Answer 21

Muscle glycogen phosphorylase (PGYM) mutation leading to myophosphorylase deficiency

Question 22

Growth restriction, microcephaly, intellectual disability, post-axial polydactyly, cleft palate, bifid uvula, syndactyly of the 2nd/3rd toes and low cholesterol levels.

Answer 22

Smith Lemli Opitz

Question 23

Two month old with malodorous steatorrhoea and FTT. Found to have vitamin ADEK deficiency and peripheral blood smear shows Acanthocytes. Lipid profile shows near absent LDL levels.

Answer 23

Abetalipoproteinaemia