Neonatal non-ketotic hyperglycinemia: a clinical, biochemical and neuropathological study including electronmicroscopic findings.

摘要: In a family of four children, three died within 8 days after birth. The fourth child survived critical first week with the same symptoms as siblings. He was at age found to have non-ketotic hyperglycinemia. histories and neuropathology other children were then reexamined. It seems highly probable that all siblings suffered from This report points clinical, biochemical neuropathological diagnostic problems in this disease also adds new information on ultrastructural changes, not hitherto visualized.