KEGG   DISEASE: Glucose 6-phosphate dehydrogenase deficiency
Entry
H01375                      Disease                                

Name
Glucose 6-phosphate dehydrogenase deficiency
  Supergrp
Other phagocyte defects [DS:H00101]
Anemia due to disorders of glutathione metabolism [DS:H00668]
Description
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked, hereditary disorder due to mutations in the G6PD gene, resulting in protein variants with different levels of enzyme activity, that are associated with a wide range of biochemical and clinical phenotypes. G6PD deficiency is the most common enzymatic disorder in humans. It is estimated that about 400 million people are affected by this deficiency. More than 400 biochemical variants of G6PD deficiency have since been defined, and grouped into five classes based on enzyme activity and clinical manifestations. The most common clinical manifestations are neonatal jaundice and acute haemolytic anaemia, which in most patients is triggered by an exogenous agent. 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.
Category
Inherited metabolic disease; Hematologic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01375  Glucose 6-phosphate dehydrogenase deficiency
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
      H01375  Glucose 6-phosphate dehydrogenase deficiency
Pathway
hsa00480  Glutathione metabolism
hsa00030  Pentose phosphate pathway
Network
nt06026  Glutathione biosynthesis
  Element
N00906  G6PD deficiency in NADP+ reduction
Gene
G6PD [HSA:2539] [KO:K00036]
Other DBs
ICD-11: 3A10.00
ICD-10: D55.0
MeSH: D005955
OMIM: 300908
Reference
PMID:18177777 (Common mutations,
Drugs and Chemicals Associated With Hemolysis in G6PD Deficiency)
  Authors
Cappellini MD, Fiorelli G
  Title
Glucose-6-phosphate dehydrogenase deficiency.
  Journal
Lancet 371:64-74 (2008)
DOI:10.1016/S0140-6736(08)60073-2
Reference
  Authors
Ronquist G, Theodorsson E
  Title
Inherited, non-spherocytic haemolysis due to deficiency of glucose-6-phosphate dehydrogenase.
  Journal
Scand J Clin Lab Invest 67:105-11 (2007)
DOI:10.1080/00365510601047910
Reference
PMID:19769422 (Drugs and Chemicals Associated With Hemolysis in G6PD Deficiency)
  Authors
Elyassi AR, Rowshan HH
  Title
Perioperative management of the glucose-6-phosphate dehydrogenase deficient patient: a review of literature.
  Journal
Anesth Prog 56:86-91 (2009)
DOI:10.2344/0003-3006-56.3.86
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