Inborn errors of Metabolism

Question 1

deficiency of methylamonyl-CoA mutase

Answer 1

Methylmalonic acidemia- vit b12 supplementation may be sufficient to achieve metabolic control.
Higher requirement for L-carnitine( supplementation usually required)

Question 2

Ornithine Transcarbamylase Deficiency

Answer 2

Conversion of ammonia to urea is impaired
Arginine become conditionally essential AA
Protein source should be initiated within 48-72 hours to prevent catabolism of lean muscle mass which contributes to ammonia production

Question 3

Very long chain Acyl-CoA dehydrogenase deficiency

Answer 3

results in hypoglycemia reduced ketone production and accumulation of fatty acid intermediates
Management: provide sufficient energy to prevent hypoglycemia an slow catabolism of fat stores- fasting limited to max 4 hours
Supplement with MCT

Question 4

Galactosemia

Answer 4

infants present with jaundice, poor feeding, and vomiting
if not treated can lead to liver failure
treatment is lifelong galactose restricted diet