ACADM AR unreviewed
MCAD deficiency
Enzyme or protein defect
Medium-chain acyl-CoA dehydrogenase
Accumulates or becomes deficient
C6-C10 dicarboxylic acids; low ketones
Key features
Hypoketotic hypoglycaemia on fasting, vomiting, coma, SIDS-like death
Management
Avoid fasting; carnitine; newborn screening
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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