E71.50

Approximate Synonyms

• Disorder of peroxisomal function

• Disorder, peroxisomal

Clinical Information

• A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia.

• A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional peroxisomes. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include zellweger syndrome; infantile refsum disease; rhizomelic chondrodysplasia chondrodysplasia punctata, rhizomelic); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and adrenoleukodystrophy x-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.

Details

• E71.50 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 E71.50 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E71.50 – other international versions of ICD-10 E71.50 may differ.