KEGG DISEASE: Anemia due to disorders of glutathione metabolism

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 (GCSD)
Glutathione synthetase deficiency [DS:H02312]
Glutathione reductase deficiency

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

Hematologic disease

Brite

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-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06026  Glutathione biosynthesis
   H00668  Anemia due to disorders of glutathione metabolism
Cellular process
  nt06525  Ferroptosis
   H00668  Anemia due to disorders of glutathione metabolism

Pathway

hsa00480

Glutathione metabolism

hsa04216

Ferroptosis

Network

nt06026 Glutathione biosynthesis
nt06525 Ferroptosis

Gene

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

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:21852236 (GPX1)

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

PMID:10515893 (GCLC)

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

PMID:15717202 (GSS)

Authors

Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S

Title

Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.

Journal

Hum Genet 116:384-9 (2005)
DOI:10.1007/s00439-005-1255-6

Reference

PMID:17185460 (GSR)

Authors

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

Title

Molecular basis of glutathione reductase deficiency in human blood cells.

Journal

Blood 109:3560-6 (2007)
DOI:10.1182/blood-2006-08-042531

LinkDB

» Japanese version

DISEASE: Glutathione synthetase deficiency

Entry

H02312                      Disease

Name

Glutathione synthetase deficiency

Supergrp

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

Pathway

hsa00480

Glutathione metabolism

hsa04216

Ferroptosis

Network

nt06026 Glutathione biosynthesis
nt06525 Ferroptosis

Gene

GSS [HSA:2937] [KO:K21456]

Other DBs

ICD-11:

5C50.Y