A Baby with Nonketotic Hyperglycinaemia
نویسندگان
چکیده
Nonketot ic hyperglyc inaemia or nonketo t ic hyperglycinaemic encephalopathy (NKH) is an autosomal recessive inborn error of glycine metabolism with poor prognosis. The inherited defect of the glycine cleavage system leads to accumulation of glycine in body fluids, such as plasma, urine and particularly, cerebrospinal fluid (CSF). In the neonatal type, NKH generally presents with intractable seizures, hiccups, muscular hypotonia, and apnoea. Elevation of glycine in the brain is thought to be responsible for these symptoms. We report a baby girl with a clinical course of the neonatal type of nonketotic hyperglycinaemia treated with sodium benzoate, dextromethorphan, anticonvulsants and supportive treatment.
منابع مشابه
Neonatal Non-Ketotic Hyperglycinaemia in a 2 Day Old Baby
Transient neonatal non-ketotic hyperglycinaemia (NKH) is a rare metabolic disorder in neonates which is indistinguishable from its classic form during the neonatal period. To our knowledge, only a few cases (about 14) of transient neonatal hyperglycinaemia have been reported. We report a 2 day old neonate who presented with clinical (seizure) and biochemical (raised CSF/Plasma glycine ratio) fe...
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