Article
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Human molecular genetics - 1 Jul 1997
Dahl N, Pigg M, Ristoff E, Gali R, Carlsson B, Mannervik B, Larsson A, Board P
Abstract excerpt
Severe glutathione synthetase (GS) deficiency is a rare genetic disorder with neonatal onset. The enzymatic block of the gamma-glutamyl cycle leads to a generalized glutathione deficiency. Clinically affected patients present with severe metabolic acidosis, 5-oxoprolinuria, increased rate of hemo...
Topics
- Acidosis
- Adult
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Anemia, Hemolytic
- Animals
- Blotting, Southern
- Child, Preschool
- Glutathione Synthase
- Humans
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Nervous System Diseases
- Phenotype