Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.

摘要: High-dose benzoate treatment aimed at reducing plasma glycine levels to normal reduces seizures and increases wakefulness in patients with nonketotic hyperglycinaemia (NKH). Since metabolism is dependent on the available pool, since pool variably affected by deficiency cleavage enzyme system, we examined importance of interpatient variability requirement. To correct for dietary contribution, index was introduced as molar requirement dose necessary normalize subtracting from that intake, both corrected weight. The varied between 3.62 4.87 mmol/kg per day five a poor neurodevelopmental outcome 0.92 1.90 four better outcome, 2.54 single patient an intermediate outcome. stable over time within each patient. Exceeding balance either increasing food intake or decreasing resulted increased levels. tolerance elevated toxic benzoate. stable, individually specific parameter NKH. It has clinical consequences required role management. Through its correlation points potential genetic factors could contribute psychomotor retardation