E71.53

HCC Category Mapping

What This Code Means

Rare inherited metabolic disorders affecting peroxisomes (cellular structures) that cause various combinations of neurological, developmental, and metabolic problems.

Coding Tips

• •This code represents a category of peroxisomal disorders; document the specific diagnosis if known (e.g., Refsum disease, hyperoxaluria type 1)
• •Ensure documentation includes clinical manifestations and metabolic findings to support the diagnosis and guide appropriate management

Clinical Significance

Other group 2 peroxisomal disorders include single-enzyme peroxisomal defects such as adult Refsum disease (phytanic acid oxidase deficiency), D-bifunctional protein deficiency, and acyl-CoA oxidase deficiency. These conditions affect specific peroxisomal metabolic pathways rather than peroxisome biogenesis as a whole. Clinical presentations vary from progressive neuropathy and retinitis pigmentosa in Refsum disease to severe neonatal-onset neurological disease in other subtypes.

Documentation Requirements

• ✓Document the specific peroxisomal enzyme deficiency, biochemical markers (phytanic acid, pristanic acid, or very long chain fatty acid levels as appropriate), genetic testing results, clinical manifestations, and management plan.
• ✓Specify why a more specific peroxisomal code is not applicable.

Commonly Confused Codes