Other disorders of peroxisome biogenesis

This code signifies a group of rare, inherited metabolic disorders characterized by the impaired formation of peroxisomes, which are organelles vital for various metabolic processes. These disorders result in the accumulation of very long-chain fatty acids and other toxic metabolites, leading to multi-systemic dysfunction. Manifestations can include neurological deficits, liver dysfunction, skeletal abnormalities, and visual/auditory impairments.

Use this code when documentation specifies a diagnosis of a peroxisome biogenesis disorder that is not Zellweger syndrome (E71.510), neonatal adrenoleukodystrophy (E71.511), or infantile Refsum disease (E71.512). This code is appropriate for other genetically confirmed or clinically diagnosed peroxisome biogenesis disorders. Supporting documentation should include genetic testing results, enzyme assays, or clinical findings consistent with a specific, but less common, peroxisome biogenesis disorder.

• Always review the medical record for specific diagnoses of peroxisome biogenesis disorders to ensure the most precise code is selected.
• Avoid using this code if a more specific code for Zellweger syndrome, neonatal adrenoleukodystrophy, or infantile Refsum disease is documented.
• Consider sequencing this code as a primary diagnosis when it is the main reason for the encounter, followed by codes for associated manifestations.