KEGG   DISEASE: Anemia due to disorders of glutathione metabolism
H00668                      Disease                                
Anemia due to disorders of glutathione metabolism
Glucose-6-phosphate dehydrogenase deficiency [DS:H01375]
Glutathione peroxidase deficiency
Gamma-glutamylcysteine synthetase deficiency
Glutathione synthetase deficiency [DS:H02312]
Glutathione reductase deficiency
Anemia due to disorders of glutathione metabolism is a group of red cell disorders caused by inherited abnormality of enzymes of glutathione metabolism. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cells in humans. It is estimated that about 400 million people are affected by this deficiency. A G6PD-deficient patient lacks the ability to protect red blood cells against oxidative stresses from certain drugs, infections, metabolic conditions, and ingestion of fava beans. GCLC catalyzes the initial and the rate-limiting step of glutathione synthesis. Deficiency of GCLC is extremely rare. GSS deficiency is a more frequent cause of glutathione deficiency.
Cardiovascular disease; Congenital disorder of metabolism
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00668  Anemia due to disorders of glutathione metabolism
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00668  Anemia due to disorders of glutathione metabolism
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Haemolytic anaemias
    Congenital haemolytic anaemia
     3A10  Hereditary haemolytic anaemia
      H00668  Anemia due to disorders of glutathione metabolism
hsa00480  Glutathione metabolism
hsa01240  Biosynthesis of cofactors
hsa04216  Ferroptosis
nt06026  Glutathione biosynthesis
G6PD [HSA:2539] [KO:K00036]
GPX1 [HSA:2876] [KO:K00432]
GCLC [HSA:2729] [KO:K11204]
GSS [HSA:2937] [KO:K21456]
GSR [HSA:2936] [KO:K00383]
Other DBs
ICD-11: 3A10.0
ICD-10: D55.0 D55.1
MeSH: D005955 C564217 C565557 C536835
OMIM: 300908 614164 230450 231900 618660
Hirono A, Iyori H, Sekine I, Ueyama J, Chiba H, Kanno H, Fujii H, Miwa S
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
Blood 87:2071-4 (1996)
PMID:21852236 (GPX1)
Lubos E, Kelly NJ, Oldebeken SR, Leopold JA, Zhang YY, Loscalzo J, Handy DE
Glutathione Peroxidase-1 Deficiency Augments Proinflammatory Cytokine-induced Redox Signaling and Human Endothelial Cell Activation.
J Biol Chem 286:35407-17 (2011)
PMID:10515893 (GCLC)
Beutler E, Gelbart T, Kondo T, Matsunaga AT
The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.
Blood 94:2890-4 (1999)
PMID:15717202 (GSS)
Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
Hum Genet 116:384-9 (2005)
PMID:17185460 (GSR)
Kamerbeek NM, van Zwieten R, de Boer M, Morren G, Vuil H, Bannink N, Lincke C, Dolman KM, Becker K, Schirmer RH, Gromer S, Roos D
Molecular basis of glutathione reductase deficiency in human blood cells.
Blood 109:3560-6 (2007)

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