The neuropathology of the nonketotic and ketotic hyperglycinemias: three cases.
Abnormal dysmyelination constitutes a pathoanatomic basis for the mental retardation in two different aminoacidopathies, nonketotic hyperglycinemia and ketotic hyperglycinemia. In both conditions myelin is decreased in amount and vacuolated. Similar patterns of dysmyelination in different aminoacidopathies suggest that abnormal myelination results from inadequate synthesis of myelin proteins.
D000592:Amino Acid Metabolism, Inborn Errors / Q000473:pathology*; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology; D003711:Demyelinating Diseases / Q000473:pathology*; D005260:Female; D005998:Glycine / Q000097:blood* / Q000652:urine; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology; D007662:Ketosis / Q000473:pathology; D008297:Male; D009186:Myelin Sheath / Q000473:pathology; D009900:Optic Nerve / Q000473:pathology; D011422:Propionates / Q000378:metabolism; D013577:Syndrome
D011422:Propionates; D005998:Glycine