ICD-10 Code E71.51 – Disorders of peroxisome biogenesis (2026): Diagnosis, Symptoms & Billing Guide
2026 ICD-10-CM Diagnosis Code E71.51 – Disorders of peroxisome biogenesis
What it is
E71.51 identifies inherited disorders in which peroxisomes do not form or function normally. These rare metabolic conditions can affect multiple organs and often begin in infancy or childhood.
Clinical signs
Clinical features vary; refer to documentation. Commonly reported findings include developmental delay, hypotonia, seizures, vision or hearing problems, and liver involvement. Diagnosis is usually based on genetic or specialized metabolic evaluation.
When to use this code
Use E71.51 when the record specifically documents a disorder of peroxisome biogenesis, including a confirmed peroxisomal biogenesis disorder or related inherited syndrome. Code it when the clinician identifies the condition as the reason for evaluation, monitoring, or inpatient care.
Do not use a broader metabolic code if the chart names this disorder more precisely. If the documentation only says “peroxisomal disorder” or is unclear, check documentation before coding.
Do not use for
Do not use this code for acquired liver disease, nonspecific developmental delay, or isolated metabolic abnormalities without a documented peroxisome biogenesis disorder. Check documentation if the diagnosis is uncertain.
Coding tip
Code E71.51 only when the provider documents a peroxisome biogenesis disorder by name or equivalent confirmed terminology.