carnitine deficiency, systemic primary
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carnitine deficiency, systemic primaryAn autosomal recessive disorder (OMIM:212140) of fatty acid oxidation caused by defective carnitine transport. Patients present in infancy with hypoketotic hypoglycaemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy.
Caused by defects in SLC22A5, which encodes a protein that is both an organic cation transporter and a high-affinity carnitine transporter.