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Up to: Inborn disorder of amino acid metabolism · Disorder of fatty acid oxidation and ketogenesis · Disorder of carnitine cycle and carnitine transport
Systemic primary carnitine deficiency disease
Systemic 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.
This condition has no sub-types.