Nonketotic Hyperglycinemia: Treatment with Diazepam—A Competitor for Glycine Receptors

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Abstract
Two female infants with nonketotic hyperglycinemia (NKH) were treated with diazepam for the control of seizures. The first infant had seizures, lethargy and respiratory distress in the first 24 h of life. The diagnosis of NKH was made at 3 wk of age. She was then placed on a regimen of strychnine and a low-protein diet. Strychnine therapy was discontinued after 3 mo. of treatment because there was no improvement in the seizure control or in the patient''s condition. At 5 mo. of age the patient was referred to the clinic for further work-up. The second infant had seizures, hypotonia and respiratory distress shortly after birth. She was treated with phenobarbital and diphenylhydantoin, which had no effect on her seizures. The baby was referred to our clinic at 8 mo. of age and diagnostic studies revealed NKH. All previous medications were stopped and both infants were placed on diazepam, a competitor for Gly receptors in the CNS. Choline and folic acid were added for 1 C unit transfer and sodium benzoate to bind excessive glycine. Both infants responded to this treatment with cessation of seizures; they became more responsive and alert, and their ECG showed remarkable improvement despite the persistence of elevated Gly levels in plasma, CSF and urine. Diazepam as a competitor for the receptors of Gly may prove helpful in controlling the intractable seizures associated with NKH.

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