MCID: GLT014
MIFTS: 23

Glutathionuria

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Glutathionuria

MalaCards integrated aliases for Glutathionuria:

Name: Glutathionuria 57 53 59 75
Gamma-Glutamyltranspeptidase Deficiency 57 53 75
Gamma-Glutamyltransferase Deficiency 57 53 73
Glutathioninuria 57 13 40
Ggt Deficiency 57 53
Gtg Deficiency 57 53
Gamma-Glutamyl Transpeptidase Deficiency 59
Ggt1 Deficiency 53
Gluth 75

Characteristics:

Orphanet epidemiological data:

59
gamma-glutamyl transpeptidase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of two turkish siblings (last curated june 2018)


HPO:

32
glutathionuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 231950
Orphanet 59 ORPHA33573
ICD10 via Orphanet 34 E72.8
UMLS via Orphanet 74 C0268524
MedGen 42 C0268524
UMLS 73 C0268524

Summaries for Glutathionuria

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 33573Disease definitionGamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.EpidemiologyIt has been detected in seven patients in five families worldwide.Clinical descriptionFive of the patients also had central nervous system involvement.EtiologyGamma-glutamyl transpeptidase catalyses the first step in the degradation of glutathione. No mutations have been identified in patients with gamma-glutamyl transpeptidase deficiency.Diagnostic methodsThe diagnosis is based on the finding of glutathionuria, elevated levels of glutathione in plasma and decreased activity of gamma-glutamyl transpeptidase in nucleated cells.Genetic counselingAs the disease is transmitted as an autosomal recessivetrait, patients should be offered genetic counseling.Management and treatmentNo specific treatment has been proposed or tested.PrognosisThe prognosis of gamma-glutamyl transpeptidase deficiency is hard to predict as only seven patients have been described worldwide.Visit the Orphanet disease page for more resources.

MalaCards based summary : Glutathionuria, also known as gamma-glutamyltranspeptidase deficiency, is related to gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to and infertility. An important gene associated with Glutathionuria is GGT1 (Gamma-Glutamyltransferase 1). Affiliated tissues include liver, and related phenotypes are intellectual disability and abnormality of metabolism/homeostasis

UniProtKB/Swiss-Prot : 75 Glutathionuria: Autosomal recessive disease.

Wikipedia : 76 Glutathionuria is the presence of glutathione in the urine, and is a rare inborn error of... more...

Description from OMIM: 231950

Related Diseases for Glutathionuria

Diseases related to Glutathionuria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to 11.5
2 infertility 9.9

Symptoms & Phenotypes for Glutathionuria

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
marfanoid features (in some patients)

Neurologic Central Nervous System:
mental retardation, mild to moderate
tremor (in some patients)

Head And Neck Eyes:
strabismus (in some patients)

Laboratory Abnormalities:
gamma-glutamyltranspeptidase deficiency
glutathionemia
glutathionuria


Clinical features from OMIM:

231950

Human phenotypes related to Glutathionuria:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 abnormality of metabolism/homeostasis 32 HP:0001939

Drugs & Therapeutics for Glutathionuria

Search Clinical Trials , NIH Clinical Center for Glutathionuria

Genetic Tests for Glutathionuria

Anatomical Context for Glutathionuria

MalaCards organs/tissues related to Glutathionuria:

41
Liver

Publications for Glutathionuria

Articles related to Glutathionuria:

# Title Authors Year
1
Synthesis and metabolism of leukotrienes in gamma-glutamyl transpeptidase deficiency. ( 14754911 )
2004
2
Reproductive defects in gamma-glutamyl transpeptidase-deficient mice. ( 11089562 )
2000
3
Altered gene expression in the liver of gamma-glutamyl transpeptidase-deficient mice. ( 10960449 )
2000
4
Mice with genetic gamma-glutamyl transpeptidase deficiency exhibit glutathionuria, severe growth failure, reduced life spans, and infertility. ( 9139708 )
1997
5
Inhibition of gamma-glutamyl transpeptidase and induction of glutathionuria by gamma-glutamyl amino acids. ( 2873573 )
1986
6
Glutathionuria: gamma-glutamyl transpeptidase deficiency. ( 6118466 )
1980
7
Translocation of intracellular glutathione to membrane-bound gamma-glutamyl transpeptidase as a discrete step in the gamma-glutamyl cycle: glutathionuria after inhibition of transpeptidase. ( 34150 )
1979
8
Glutathionuria: inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase. ( 238530 )
1975

Variations for Glutathionuria

Expression for Glutathionuria

Search GEO for disease gene expression data for Glutathionuria.

Pathways for Glutathionuria

GO Terms for Glutathionuria

Sources for Glutathionuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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