E71.510

HCC Category Mapping

What This Code Means

A severe inherited metabolic disorder present from birth where peroxisomes (cellular structures) fail to develop properly, causing multiple organ system problems including developmental delays and facial abnormalities.

Coding Tips

• •This is typically diagnosed in the neonatal period; document age of onset and clinical findings (hypotonia, seizures, facial dysmorphism)
• •Zellweger syndrome is the most severe form of peroxisomal biogenesis disorders; prognosis is poor with most infants not surviving past infancy

Clinical Significance

Zellweger syndrome (cerebrohepatorenal syndrome) is the most severe form of peroxisome biogenesis disorder, characterized by complete absence of functional peroxisomes leading to devastating multi-system disease presenting at birth. Affected infants display severe hypotonia, seizures, hepatomegaly, renal cysts, characteristic facial features, and profound developmental impairment. Prognosis is poor with most patients not surviving beyond the first year of life.

Documentation Requirements

• ✓Document neonatal presentation including hypotonia, seizures, craniofacial dysmorphism, hepatomegaly, very long chain fatty acid levels (markedly elevated), plasmalogen levels (severely decreased), and genetic testing confirming PEX gene mutations.
• ✓Record supportive care measures and multisystem involvement.

Commonly Confused Codes