Neonatal non-ketotic hyperglycinemia: a clinical, biochemical and neuropathological study including electronmicroscopic findings.
In a family of four children, three died within 8 days after birth. The fourth child survived after a critical first week with the same symptoms as the siblings. He was at the age of four found to have non-ketotic hyperglycinemia. The histories and neuropathology of the other children were then reexamined. It seems highly probable that all siblings suffered from non-ketotic hyperglycinemia. This report points to the clinical, biochemical and neuropathological diagnostic problems in this disease and also adds new information on the ultrastructural changes, not hitherto visualized.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000473:pathology*; D001921:Brain / Q000473:pathology; D002543:Cerebral Hemorrhage / Q000473:pathology; D005260:Female; D005998:Glycine / Q000097:blood* / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood / Q000473:pathology*; D008607:Intellectual Disability / Q000097:blood; D008297:Male; D009186:Myelin Sheath / Q000648:ultrastructure; D009457:Neuroglia / Q000648:ultrastructure; D009474:Neurons / Q000648:ultrastructure; D014617:Vacuoles / Q000648:ultrastructure
D005998:Glycine