Ornithine carbamoyl transferase deficiency: a neuropathological study.
A detailed autopsy study of three children with ornithine carbamoyl transferase (OCT) deficiency is presented. Although variable in extent, a basic pattern of neuropathological lesions is discernible. Case 1 shows gross cerebral atrophy, cases 2 and 3 milder lesions in the basal nuclei but also multiple cerebellar heterotopias and delayed myelination. We suggest that the findings may provide evidence that OCT deficiency can have a teratogenic effect in utero and suggest that there is a need to monitor the pregnancies of carriers of this disorder.
D000592:Amino Acid Metabolism, Inborn Errors / Q000196:embryology / Q000473:pathology*; D000641:Ammonia / Q000097:blood*; D001284:Atrophy; D001921:Brain / Q000196:embryology / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009474:Neurons / Q000473:pathology; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D011247:Pregnancy
D000641:Ammonia