A case of severe glutathione synthetase deficiency with novel GSS mutations
Braz. j. med. biol. res
; 51(3): e6853, 2018. tab, graf
Article
en En
| LILACS
| ID: biblio-889048
Biblioteca responsable:
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.
Palabras clave
Texto completo:
1
Bases de datos:
LILACS
Asunto principal:
Errores Innatos del Metabolismo de los Aminoácidos
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Glutatión Sintasa
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Mutación
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Idioma:
En
Revista:
Braz. j. med. biol. res
Año:
2018
Tipo del documento:
Article
País de afiliación:
China