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J Pediatr Endocrinol Metab ; 29(4): 481-5, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26669244

RESUMO

BACKGROUND: Glutathione synthetase (GS) deficiency is a rare inborn error of glutathione (GSH) metabolism manifested by severe metabolic acidosis, hemolytic anemia, neurological problems and massive excretion of pyroglutamic acid (5-oxoproline) in the urine. The disorder has mild, moderate, and severe clinical variants. We aimed to report clinical and laboratory findings of four patients, effect of sodium hydrogen carbonate treatment and long-term follow up of three patients. METHODS: Urine organic acid analysis was performed with gas chromatography-mass spectrometry. Molecular genetic analysis was performed in three patients, mutation was found in two of them. Enzyme analysis was performed in one patient. Clinical and laboratory findings of four patients were evaluated. RESULTS: One patient died at 4 months old, one patient's growth and development are normal, two patients have developed intellectual disability and seizures in the long term follow up period. Three patients benefited from sodium hydrogen carbonate treatment. CONCLUSIONS: The clinical picture varies from patient to patient, so it is difficult to predict the prognosis and the effectiveness of treatment protocols. We reported long term follow up of four patients and demonstrated that sodium hydrogen carbonate is effective for treatment of chronic metabolic acidosis in GS deficieny.


Assuntos
Acidose/tratamento farmacológico , Erros Inatos do Metabolismo dos Aminoácidos/tratamento farmacológico , Glutationa Sintase/deficiência , Glutationa Sintase/genética , Glutationa/metabolismo , Ácido Pirrolidonocarboxílico/urina , Bicarbonato de Sódio/uso terapêutico , Acidose/genética , Acidose/urina , Erros Inatos do Metabolismo dos Aminoácidos/genética , Erros Inatos do Metabolismo dos Aminoácidos/urina , Feminino , Cromatografia Gasosa-Espectrometria de Massas/métodos , Glutationa Sintase/urina , Humanos , Recém-Nascido , Masculino , Mutação/genética , Prognóstico
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