Inborn Errors of metabolism

Question 1

PKU missing enzyme?

Answer 1

phenylalanine hydroxylase

Question 2

cystothionine synthetase deficiency

Answer 2

homocystinurea

Question 3

fumarylacetoacetase deficiency

Answer 3

tyrosinaemia

Question 4

galactosaemia missing enzyme?

Answer 4

galactose 1 phosphate uridyltransferase deficiency

Question 5

present with a respiratory alkalosis and hyperammonia

Answer 5

urea cycle disorders

also usually have D+ V especially when they eat protein.
they often have psychiatric disturbances

Question 6

trunkal hypotonia with limb hypertonia

Answer 6

Organic acidurea - BCAA metabolism disrupted - presents with usual smelly odor of person and urine

Question 7

dysmorphia seizures and jaundice

Answer 7

peroxisomal disorder - disorder of very long chain fatty acids

Question 8

non lactate high ion gap, hypocalcaemia and neutropenia

Answer 8

Organic acidurea - BCAA metabolism disrupted - presents with usual smelly odor of person and urine

Question 9

dysmorphic features with urine mucopolysaccharides and oligosaccharides

Answer 9

lysosomal storage disorder

Question 10

Cardiomyopathy, hepatomegaly and lactic acidos

Answer 10

glycogen storage disorders - cannot breakdown glycogen leading to excess stores.

Question 11

reducing substances in the urine and recurrent e.coli infections

Answer 11

galactosaemia

Question 12

What is the maintenance dose of fluids (not in dka)

Answer 12

0-10kg - 100ml/kg
10-20kg - 50ml/kg
20+kg - 20ml/kg