A case of severe glutathione synthetase deficiency with novel GSS mutations
Rev. bras. pesqui. méd. biol
; Braz. j. med. biol. res;51(3): e6853, 2018. tab, graf
Article
em En
| LILACS
| ID: biblio-889048
Biblioteca responsável:
BR1.1
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Erros Inatos do Metabolismo dos Aminoácidos
/
Glutationa Sintase
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Mutação
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Humans
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Male
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Newborn
Idioma:
En
Revista:
Braz. j. med. biol. res
/
Rev. bras. pesqui. méd. biol
Assunto da revista:
BIOLOGIA
/
MEDICINA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
China
País de publicação:
Brasil