Non-Ketotic Neonatal Hyperglycinaemia: Case Report

Non-ketotic hyperglycinaemia is an autosomal recessive inborn error of metabolism of the amino acid glycine, it is a rare entity with classical manifestations in the neonatal period, consisting of intractable seizures and apnoeas that require prolonged ventilation support. Presented here is a case report of a two-month old infant with seizures and evidence of neurological impairment since the third day of life. Magnetic Resonance imaging (MRI) and MR spectroscopy (MRS) findings are described.