Data/hora: 11/06/2024 11:14:17

Provedor de dados: 	56	
País: 	Brazil	
Título: 	A case of severe glutathione synthetase deficiency with novel GSS mutations	
Autores: 	Xia,H.; Ye,J.; Wang,L.; Zhu,J.; He,Z.	
Data: 	2018-01-01	
Ano: 	2018	
Palavras-chave: 	Glutathione synthetase; 5-oxoprolinuria; Newborn; Metabolism; Mutation.	
Resumo: 	Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made. DNA sequence analysis revealed the infant to be compound heterozygous with two mutations, c.738dupG in exon 8 of GSS gene resulting in p.S247fs and a repetitive sequence in exon 3 of GSS gene. Treatment after diagnosis of GSSD included supplementation with antioxidants and oral sodium hydrogen bicarbonate. However, he maintained a variable degree of metabolic acidosis and succumbed shortly after his parents requested discontinuation of therapy because of dismal prognosis and medical futility when he was 18 days old.	
Tipo: 	Info:eu-repo/semantics/report	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000300501	
Editor: 	Associação Brasileira de Divulgação Científica	
Relação: 	10.1590/1414-431x20176853	
Formato: 	text/html	
Fonte: 	Brazilian Journal of Medical and Biological Research  v.51 n.3 2018	
Fonte: 	info:eu-repo/semantics/openAccess