Peroxisome biogenesis disorder 8B

info · Genetic

A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11.

Signs and symptoms

Elevated circulating phytanic acid concentration
Very long chain fatty acid accumulation
Cataract
Dysarthria
Decreased liver function
Dysmetria
Ataxia
Failure to thrive
Frequent falls
Leukodystrophy