SLC22A5 AR unreviewed
Primary carnitine deficiency
Beta-oxidation (transport)
Enzyme or protein defect
OCTN2 carnitine transporter
Accumulates or becomes deficient
Low tissue carnitine
Key features
Cardiomyopathy, hypotonia, hypoketotic hypoglycaemia
Management
Oral carnitine
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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