KEGG   DISEASE: Anemia due to disorders of glutathione metabolism
Entry
H00668                      Disease                                

Name
Anemia due to disorders of glutathione metabolism
  Subgroup
Glucose-6-phosphate dehydrogenase deficiency [DS:H01375]
Glutathione peroxidase deficiency
Gamma-glutamylcysteine synthetase deficiency
Glutathione synthetase deficiency [DS:H02312]
Description
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.
Category
Inherited metabolic disease; Hematologic disease
Brite
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
Pathway
hsa00480  Glutathione metabolism
hsa00030  Pentose phosphate pathway
Network
nt06026  Glutathione biosynthesis
  Element
N00900  GPX1 deficiency in glutathione biosynthesis
N00901  GSS deficiency in glutathione biosynthesis
N00902  GCLC deficiency in glutathione biosynthesis
N00906  G6PD deficiency in NADP+ reduction
Gene
G6PD [HSA:2539] [KO:K00036]
GPX1 [HSA:2876] [KO:K00432]
GCLC [HSA:2729] [KO:K11204]
GSS [HSA:2937] [KO:K21456]
Other DBs
ICD-11: 3A10.0
ICD-10: D55.0 D55.1
MeSH: D005955 C564217 C565557 C536835
OMIM: 300908 614164 230450 231900
Reference
PMID:8634459
  Authors
Hirono A, Iyori H, Sekine I, Ueyama J, Chiba H, Kanno H, Fujii H, Miwa S
  Title
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
  Journal
Blood 87:2071-4 (1996)
Reference
PMID:5766310
  Authors
Necheles TF, Maldonado N, Barquet-Chediak A, Allen DM
  Title
Homozygous erythrocyte glutathione-peroxidase deficiency: clinical and biochemical studies.
  Journal
Blood 33:164-9 (1969)
Reference
  Authors
Lubos E, Kelly NJ, Oldebeken SR, Leopold JA, Zhang YY, Loscalzo J, Handy DE
  Title
Glutathione Peroxidase-1 Deficiency Augments Proinflammatory Cytokine-induced Redox Signaling and Human Endothelial Cell Activation.
  Journal
J Biol Chem 286:35407-17 (2011)
DOI:10.1074/jbc.M110.205708
Reference
  Authors
Beutler E, Gelbart T, Kondo T, Matsunaga AT
  Title
The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.
  Journal
Blood 94:2890-4 (1999)
Reference
  Authors
Almaghlouth IA, Mohamed JY, Al-Amoudi M, Al-Ahaidib L, Al-Odaib A, Alkuraya FS
  Title
5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
  Journal
Clin Genet 82:193-6 (2012)
DOI:10.1111/j.1399-0004.2011.01728.x
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