MCID: GLT007
MIFTS: 43

Glutathione Synthetase Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Glutathione Synthetase Deficiency

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Glutathione Synthetase Deficiency:

Name: Glutathione Synthetase Deficiency 52 48 24 25 54 70 12 50
Pyroglutamic Aciduria 48 24 25 70
5-Oxoprolinuria 48 24 25 70
Pyroglutamicaciduria 48 24 54
Deficiency of Glutathione Synthetase 25 27
Glutathione Synthetase Deficiency with 5-Oxoprolinuria 54
Deficiency of Glutathione Synthase 25
 
Gluthathione Synthetase Deficiency 68
5-Oxoprolinase Deficiency 68
Oxoprolinase Deficiency 48
Glutathione Synthetase 12
Pyroglutamic Acidemia 25
5-Oxoprolinemia 25
Gss Deficiency 70

Characteristics:

Orphanet epidemiological data:

54
glutathione synthetase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
glutathione synthetase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 266130
UMLS via Orphanet69 C1291643, C0398746
MESH via Orphanet40 C536835
ICD10 via Orphanet31 D55.1
MedGen37 C0398746

Summaries for Glutathione Synthetase Deficiency

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NIH Rare Diseases:48 Glutathione synthetase deficiency is type of organic acidemia that affects the production glutathione. Glutathione helps prevent cell damage, build DNA and proteins, and process medications and cancer-causing compounds. People can have mild, moderate, or severe disease. Mild disease may cause hemolytic anemia and 5-oxoprolinuria (excess excretion of 5-oxoproline in urine). Moderate disease may cause anemia, 5-oxoprolinuria, and metabolic acidosis in early infancy. Severe disease may cause anemia, 5-oxoprolinuria, metabolic acidosis, neurological symptoms (e.g., seizures, learning disability, loss of coordination), and recurrent infections. It is caused by mutations in the GSS gene and is inherited in an autosomal recessive fashion. Last updated: 2/4/2011

MalaCards based summary: Glutathione Synthetase Deficiency, also known as pyroglutamic aciduria, is related to hepatitis and hemolytic anemia due to glutathione synthetase deficiency, and has symptoms including abnormality of the nervous system, anemia and abnormality of metabolism/homeostasis. An important gene associated with Glutathione Synthetase Deficiency is GSS (Glutathione Synthetase), and among its related pathways are Arachidonic acid metabolism and Linoleic acid metabolism. Affiliated tissues include neutrophil and liver.

Genetics Home Reference:25 Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components.

OMIM:52 Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe... (266130) more...

UniProtKB/Swiss-Prot:70 Glutathione synthetase deficiency: Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system.

Wikipedia:71 Glutathione synthetase deficiency is a rare autosomal recessivemetabolic disorder that prevents the... more...

Related Diseases for Glutathione Synthetase Deficiency

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Graphical network of diseases related to Glutathione Synthetase Deficiency:



Diseases related to glutathione synthetase deficiency

Symptoms & Phenotypes for Glutathione Synthetase Deficiency

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Symptoms by clinical synopsis from OMIM:

266130

Clinical features from OMIM:

266130

Human phenotypes related to Glutathione Synthetase Deficiency:

 64 54 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the nervous system64 54 hallmark (90%) Very frequent (99-80%) HP:0000707
2 anemia64 hallmark (90%) HP:0001903
3 abnormality of metabolism/homeostasis64 hallmark (90%) HP:0001939
4 abnormality of immune system physiology64 54 hallmark (90%) Very frequent (99-80%) HP:0010978
5 pigmentary retinopathy64 HP:0000580
6 intellectual disability64 HP:0001249
7 seizures64 HP:0001250
8 ataxia64 HP:0001251
9 dysarthria64 HP:0001260
10 spastic tetraparesis64 HP:0001285
11 psychotic mentation64 HP:0001345
12 neutropenia64 HP:0001875
13 hemolytic anemia64 54 Very frequent (99-80%) HP:0001878
14 chronic metabolic acidosis64 54 Very frequent (99-80%) HP:0001996
15 intention tremor64 HP:0002080
16 glutathione synthetase deficiency64 54 Very frequent (99-80%) HP:0003343

UMLS symptoms related to Glutathione Synthetase Deficiency:


abdominal pain, diarrhea, vomiting

Drugs & Therapeutics for Glutathione Synthetase Deficiency

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Review of French Cases of Glutathione Synthetase DeficiencyNot yet recruitingNCT02830867

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Genetic Tests for Glutathione Synthetase Deficiency

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Genetic tests related to Glutathione Synthetase Deficiency:

id Genetic test Affiliating Genes
1 Glutathione Synthetase Deficiency27 24 GSS

Anatomical Context for Glutathione Synthetase Deficiency

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MalaCards organs/tissues related to Glutathione Synthetase Deficiency:

36
Neutrophil, Liver

Publications for Glutathione Synthetase Deficiency

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Articles related to Glutathione Synthetase Deficiency:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. (27581854)
2016
2
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency. (26669244)
2016
3
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency. (26984560)
2016
4
Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency. (25727596)
2015
5
Hemolytic Anemia and Metabolic Acidosis: Think about Glutathione Synthetase Deficiency. (25166299)
2014
6
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study. (19111905)
2009
7
Diagnosis of glutathione synthetase deficiency in newborn screening. (19728142)
2009
8
Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient. (17479648)
2007
9
Oxidative DNA damage in cultured fibroblasts from patients with hereditary glutathione synthetase deficiency. (16036337)
2005
10
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency. (16435214)
2005
11
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. (15717202)
2005
12
Glutathione synthetase deficiency. (15990954)
2005
13
A newborn infant with generalized glutathione synthetase deficiency. (15074378)
2004
14
Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased levels of leukotriene C4 in a patient with glutathione synthetase deficiency. (15243994)
2004
15
S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency. (15617191)
2004
16
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes. (15056072)
2004
17
Glutathione synthetase deficiency associated with antenatal cerebral bleeding. (15243982)
2004
18
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene. (14635114)
2003
19
Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione? (12638941)
2002
20
Long-term clinical outcome in patients with glutathione synthetase deficiency. (11445798)
2001
21
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies. (11167850)
2001
22
Kinetic properties of missense mutations in patients with glutathione synthetase deficiency. (10861239)
2000
23
Generalized glutathione synthetase deficiency and pregnancy. (10472538)
1999
24
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency. (10450861)
1999
25
Molecular basis of glutathione synthetase deficiency and a rare gene permutation event. (10369661)
1999
26
Biochemical and molecular bases of glutathione synthetase deficiency]. (9590072)
1998
27
Effect of decreased glutathione levels in hereditary glutathione synthetase deficiency on dibromoethane-induced genotoxicity in human fibroblasts. (9093395)
1997
28
Glutathione synthetase deficiency]. (8847804)
1996
29
Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency. (7623442)
1995
30
Glutathione synthetase deficiency: a family report. (8158601)
1994
31
Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency. (8301428)
1994
32
Impaired synthesis of lipoxygenase products in glutathione synthetase deficiency. (8190517)
1994
33
High-dose vitamin E therapy in glutathione synthetase deficiency. (7707700)
1994
34
Deficient synthesis of cysteinyl leukotrienes in glutathione synthetase deficiency. (8088946)
1993
35
Prenatal analysis in two suspected cases of glutathione synthetase deficiency. (8295398)
1993
36
5-Oxoprolinuria due to glutathione synthetase deficiency. (1293394)
1992
37
5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome. (1770788)
1991
38
A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria). (2502672)
1989
39
Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency. (3944259)
1986
40
Ophthalmological, psychometric and therapeutic investigation in two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria). (4047346)
1985
41
Acetaminophen toxicity in lymphocytes heterozygous for glutathione synthetase deficiency. (4041989)
1985
42
Sulphur amino-acid degradation in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria). (3938407)
1985
43
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency. (6882923)
1983
44
Chronic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency or glutathione synthetase deficiency: the role of vitamin E in its treatment. (6959562)
1982
45
Pyroglutamic aciduria (5-oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity. (6790862)
1981
46
Oxidative damage to neutrophils in glutathione synthetase deficiency. (465367)
1979
47
Protection of granulocytes by vitamin E in glutathione synthetase deficiency. (481537)
1979
48
Association of glutathione synthetase deficiency and diminished amino acid transport in yeast. (42394)
1979
49
The gamma-glutamyl cycle and amino acid transport. Studies of free amino acids, gamma-glutamyl-cysteine and glutathione in erythrocytes from patients with 5-oxoprolinuria (glutathione synthetase deficiency). (28482)
1978
50
Biochemical heterogeneity in glutathione synthetase deficiency. (659603)
1978

Variations for Glutathione Synthetase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Glutathione Synthetase Deficiency:

70 (show all 13)
id Symbol AA change Variation ID SNP ID
1GSSp.Ala26AspVAR_003602rs759253242
2GSSp.Leu188ProVAR_003603
3GSSp.Asp219AlaVAR_003604
4GSSp.Asp219GlyVAR_003605rs28938472
5GSSp.Leu254ArgVAR_003606
6GSSp.Arg267TrpVAR_003607rs121909308
7GSSp.Tyr270CysVAR_003608
8GSSp.Tyr270HisVAR_003609
9GSSp.Arg283CysVAR_003610rs121909309
10GSSp.Leu286GlnVAR_003611
11GSSp.Arg330CysVAR_003612rs148640446
12GSSp.Gly464ValVAR_003613
13GSSp.Asp469GluVAR_003614

Clinvar genetic disease variations for Glutathione Synthetase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1OPLAHOPLAH, 1-BP INS, 2601CinsertionPathogenicChr na, -1: -1
2OPLAHNM_017570.4(OPLAH): c.969C> A (p.Ser323Arg)SNVPathogenicrs398122906GRCh37Chr 8, 145113032: 145113032
3OPLAHNM_017570.4(OPLAH): c.3265G> A (p.Val1089Ile)SNVPathogenicrs185836803GRCh37Chr 8, 145107390: 145107390
4GSSNM_000178.3(GSS): c.491G> A (p.Arg164Gln)SNVPathogenicrs121909307GRCh37Chr 20, 33530291: 33530291
5GSSGSS, 1-BP DEL, NT3/4GdeletionPathogenicChr na, -1: -1
6GSSNM_000178.3(GSS): c.799C> T (p.Arg267Trp)SNVPathogenicrs121909308GRCh37Chr 20, 33523414: 33523414
7GSSNM_000178.3(GSS): c.847C> T (p.Arg283Cys)SNVPathogenicrs121909309GRCh37Chr 20, 33519924: 33519924
8GSSNM_000178.3(GSS): c.373C> T (p.Arg125Cys)SNVPathogenicrs28936396GRCh37Chr 20, 33530409: 33530409
9GSSNM_000178.3(GSS): c.941C> T (p.Pro314Leu)SNVPathogenicrs75863437GRCh37Chr 20, 33519830: 33519830

Expression for genes affiliated with Glutathione Synthetase Deficiency

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Search GEO for disease gene expression data for Glutathione Synthetase Deficiency.

Pathways for genes affiliated with Glutathione Synthetase Deficiency

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GO Terms for genes affiliated with Glutathione Synthetase Deficiency

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Cellular components related to Glutathione Synthetase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058297.6ALOX5, G6PD, GLUL, GSS, OPLAH

Biological processes related to Glutathione Synthetase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular amino acid metabolic processGO:000652010.1GGT1, GSS
2glutamate metabolic processGO:000653610.0GGT1, GLUL
3glutathione biosynthetic processGO:00067509.6GGT1, GSS, OPLAH
4leukotriene biosynthetic processGO:00193709.4ALOX5, GGT1
5glutathione metabolic processGO:00067499.3G6PD, GGT1, OPLAH
6leukotriene metabolic processGO:00066919.1ALOX5, GGT1

Sources for Glutathione Synthetase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet