Metabolic Flashcards
1
Q
What does Medium-chain acyl-coenzyme A dehydrogenase deficiency look like?
A
Hypoglycaemia in first 3 years of life
Brought on by period of fasting or vomiting IN THE ABSENCE OF KETONES.
hepatomegaly
2
Q
What do urea cycle disorders look like?
A
High ammonia levels > 150micromol/l
3
Q
What does organic aciduria look like?
A
Metabolic acidosis WITH ketosis, elevated lactate and mild-moderate hyperammonaemia
