|Name||Anemia due to disorders of glutathione metabolism|
|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|
|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
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)
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)
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)
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)
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)