A case of severe glutathione synthetase deficiency with novel GSS mutations
Braz. j. med. biol. res
;
51(3): e6853, 2018. tab, graf
Article
in English
| LILACS
| ID: biblio-889048
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:
Available
Index:
LILACS (Americas)
Main subject:
Amino Acid Metabolism, Inborn Errors
/
Glutathione Synthase
/
Mutation
Type of study:
Etiology study
/
Prognostic study
Limits:
Humans
/
Male
/
Infant, Newborn
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
2018
Type:
Article
Affiliation country:
China
Institution/Affiliation country:
Shanghai Jiao Tong University School of Medicine/CN
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