A case of severe glutathione synthetase deficiency with novel GSS mutations.
Braz J Med Biol Res
; 51(3): e6853, 2018 Jan 11.
Article
in En
| MEDLINE
| ID: mdl-29340523
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Amino Acid Metabolism, Inborn Errors
/
Glutathione Synthase
/
Mutation
Type of study:
Etiology_studies
/
Prognostic_studies
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
Braz J Med Biol Res
Year:
2018
Document type:
Article
Affiliation country:
China