peroxisomal disease

peroxisomal disease

Any of a heterogeneous group of diseases in which peroxisomes are either lacking or markedly ↓, resulting in metabolic defects in all major biosynthetic peroxisomal pathways and failure to synthesize lipids or oxidize long-chain fatty acids Examples Zellweger's cerebrohepatorenal syndrome, rhizomelic chondrodysplasia punctata, neonatal adrenoleukodystrophy, infantile Refsum disease, hyperpipecolic acidemia