Resumo

CIFUENTES C, Yolanda; BERMUDEZ, Martha  e  ARTEAGA D, Clara. Neonathal encefhalopathy something more that perinatal asphysia. rev.fac.med. [online]. 2007, vol.55, n.2, pp.126-134. ISSN 0120-0011.

Nonketotic hyperglycinemia is an inborn error of metabolism resulting from a defect in the glycine cleavage enzyme system, is inherited as an autosomal recessive trait. It is characterized by elevated concentrations of glycine in blood and central nervous system. Accumulation of glycine in the brain is thought to cause excessive stimulation of the inhibitory and excitatory receptors presenting apnea, hipcus, seizures and brain damage. We report a full-term male newborn with encephalopathy in the first days of life. He did not present hypoglicemia, metabolic acidosis, non hyperammonemia cetosis. The brain ultrasonography was normal. At six days of age he presents respiratory failure and needs mecanic ventilation. Thin layer chromatography shows glycine in plasma and urine. He was treated with sodium benzoate, diazepam and a low-protein diet. He improved and at 42 days of age he was discharged with the same treatment. The acylcarnitine profile does in Santiago de Compostela was normal. The concentrations of amino acids does in CEDEM was found elevated glycine in plasma and cerebrospinal fluid and the glycine ratio LCR/plasma establish the diagnosis of Typical Neonatal non-ketotic hyperglycinemia. We revised the etiology of neonatal encephalopathy and proposed diagnostic secuency.

Palavras-chave : brain diseases; hyperglycinemia; nonketotic; metabolism; inborn errors (IEM); phenotype.

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