A milder variant of Zellweger syndrome.
A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zellweger syndrome (ZS). Morphologically distinct peroxisomes were absent in the liver. In blood elevated pipecolic acid levels and abnormal levels of bile acid intermediates were found. The plasmalogen content of erythrocytes was normal. In fibroblasts we found an accumulation of very long chain fatty acids, decreased activity of acyl CoA:dihydroxyacetone phosphate acyltransferase, and impaired de novo biosynthesis of plasmalogens. On the basis of these clinical, ultrastructural and biochemical characteristics we assume that this patient represents a milder variant of the classical cerebro-hepato-renal syndrome of Zellweger.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001706:Biopsy; D002675:Child, Preschool; D002829:Choroid; D004827:Epilepsy / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities*; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000235:genetics; D010875:Pipecolic Acids / Q000097:blood; D012164:Retinal Diseases / Q000235:genetics*; D013577:Syndrome; D014603:Uveal Diseases / Q000235:genetics
D010875:Pipecolic Acids; C031345:pipecolic acid