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Systemic primary carnitine deficiency disease
rareSystemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
- Identifiers
- MONDO:0008919 OMIM:212140Orphanet:158
- Causal genes
- SLC22A5
- Part of
- Disorder of carnitine cycle and carnitine transportDisorder of fatty acid oxidation and ketogenesisInborn disorder of amino acid metabolism
- Also known as
- Carnitine deficiency · CARNITINE deficiency, systemic primary · Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine · Carnitine plasma-membrane transporter deficiency · Carnitine transporter defect
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