Abstract
Nonketotic hyperglycinemia (NKH) is a disorder of glycine metabolism characterized by severe mental retardation, seizures and early death. A female presented on the 3rd day of life with hypotonia, seizures and respiratory distress was treated with phenobarbital and Dilantin with poor response. At 8 months evaluation revealed a severely delayed, hypotonic female with random eye movements, lack of head control and no interaction with her surrounding. Repeated EEG's revealed a status epilepticus pattern Plasma glycine was 72.1 μmol/dl (normal 5.6-30.8), urine glycine was 2850 mg/Gm creatinine (normal 200-250) and CSF glycine 29.2 μmol/dl (normal 3.0-6.0). No organic aciduria was present. Treatment with diazepam as a glycine antagonist and choline with folic acid for one-carbon unit transfer was adopted. Diazepam 1.5 mg/Kg with 4 Gm of choline and 2 mg of folic acid were given daily. Adequate caloric intake with 1.5 Gm of protein/Kg/day was given with sodium benzoate 150 mg/Kg/day. Three months after treatment plasma and urine glycine remained elevated, 65.4 μmol/dl and 4590 mg/Gm creatinine, respectively; however, CSF glycine dropped markedly to 8 μmol/dl. The patient improved dramatically: has had no seizures, has become alert and aware of her environment, has been smiling and has been able to hold her head. Repeated EEG showed definite improvement with fewer discharges. This new method of treatment suggests that diazepam with choline resulted in better seizure control and improvement of tone and development in NKH.
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Matalon, R., Michals, K. & Naidu, S. 1160 TREATMENT OF NONKETOTIC HYPERGLYCINEMIA WITH DIAZEPAM, CHOLINE AND FOLIC ACID. Pediatr Res 15 (Suppl 4), 636 (1981). https://doi.org/10.1203/00006450-198104001-01186
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DOI: https://doi.org/10.1203/00006450-198104001-01186
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