Anemia due to disorders of glutathione metabolism [DS:H00668]
Description
Glutathione synthetase deficiency (GSD) is a rare autosomal recessive disorder. The clinical phenotype varies widely, and nearly 30 different mutations in the GSS gene have been identified. In severe form, it is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, haemolytic anaemia and central nervous system damage. A milder form, which is only associated with haemolytic anaemia, has also been reported.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H02312 Glutathione synthetase deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06026 Glutathione biosynthesis
H02312 Glutathione synthetase deficiency
Cellular process
nt06525 Ferroptosis
H02312 Glutathione synthetase deficiency
