nonketonic hyperglycinemia: Treatment with diazepam - A competitor for glycine receptors

Reuben Matalon, Naidus, J. R. Hughes, K. Michals

Research output: Contribution to journalArticle

24 Citations (Scopus)

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 hours of life. The diagnosis of NKH was made at 3 weeks of age and she was then placed on a regimen of styrchnine and a low-protein diet. Strychnine therapy was discontinued after three months of treatment because there was no improvement in the seizure control or in the patient's condition. At 5 months of age the patient was referred to our 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 months of age and diagnostic studies revealed NKH. All previous medications were stopped and both infants were placed on diazepam, a competitor for glycine receptors in the CNS. Choline and folic acid were added for one-carbon 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 EEGs showed remarkable improvement despite the persistence of elevated glycine levels in plasma, CSF, and urine. Diazepam as a competitor for the receptors of glycine may prove helpful in controlling the intractable seizures associated with NKH.

Original languageEnglish (US)
Pages (from-to)581-584
Number of pages4
JournalPediatrics
Volume71
Issue number4
StatePublished - 1983
Externally publishedYes

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Glycine Receptors
Diazepam
Nonketotic Hyperglycinemia
Seizures
Glycine
Therapeutics
Sodium Benzoate
Strychnine
Protein-Restricted Diet
Lethargy
Withholding Treatment
Muscle Hypotonia
Phenytoin
Phenobarbital
Choline
Folic Acid
Electroencephalography
Carbon
Urine
Parturition

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

nonketonic hyperglycinemia : Treatment with diazepam - A competitor for glycine receptors. / Matalon, Reuben; Naidus; Hughes, J. R.; Michals, K.

In: Pediatrics, Vol. 71, No. 4, 1983, p. 581-584.

Research output: Contribution to journalArticle

Matalon, R, Naidus, Hughes, JR & Michals, K 1983, 'nonketonic hyperglycinemia: Treatment with diazepam - A competitor for glycine receptors', Pediatrics, vol. 71, no. 4, pp. 581-584.
Matalon, Reuben ; Naidus ; Hughes, J. R. ; Michals, K. / nonketonic hyperglycinemia : Treatment with diazepam - A competitor for glycine receptors. In: Pediatrics. 1983 ; Vol. 71, No. 4. pp. 581-584.
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