E71.41

Approximate Synonyms

• Carnitine deficiency, primary

• Renal carnitine transport defect

Clinical Information

• An autosomal recessive inherited disorder caused by mutations in the slc22a5 gene. It is characterized by the presence of a defective protein called octn2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting.

Details

• E71.41 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E71.41 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E71.41 – other international versions of ICD-10 E71.41 may differ.