carnitine deficiency

Pathology

• disorder of fatty acid oxidation caused by defective carnitine transport

Genetics

• autosomal recessive
• defect in organic cation/carnitine transporter 2 (SLC22A5)

Clinical manifestations

• systemic primary carnitine deficiency presents either:
  • early in life with hypoketotic hypoglycemia & acute metabolic decompensation
  • later in life with skeletal myopathy or cardiomyopathy

Laboratory

• serum glucose may show hypoglycemia
• serum ketones negative
• acylcarnitines in serum/plasma low or absent

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/603377
• OMIM: https://mirror.omim.org/entry/212140