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GLUTH
MCID: GLT014
MIFTS: 37
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Glutathionuria (GLUTH)
Categories:
Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Glutathionuria:
Characteristics:Orphanet epidemiological data:58
gamma-glutamyl transpeptidase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
based on a report of two turkish siblings (last curated june 2018) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Nephrological diseases
ICD10:
33
Orphanet: 58
Inborn errors of metabolism |
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 33573DefinitionA disorder that is characterized by increased glutathione concentration in the plasma and urine.EpidemiologyGamma-glutamyl transpeptidase deficiency 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 recessive trait, 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-glutamyltransferase deficiency, is related to gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to and marfan syndrome. An important gene associated with Glutathionuria is GGT1 (Gamma-Glutamyltransferase 1), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. Related phenotypes are tremor and strabismus Disease Ontology : 12 An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has material basis in homozygous or compound heterozygous mutation in GGT1 on 22q11.23. UniProtKB/Swiss-Prot : 73 Glutathionuria: A very rare, autosomal recessive metabolic disorder characterized by the presence of glutathione in the urine, due to generalized gamma- glutamyl transpeptidase deficiency. Most patients manifest mild to moderate mental retardation, and behavioral disturbance. Seizures, tremor, marfanoid features and strabismus are observed in some patients. Wikipedia : 74 Glutathionuria is the presence of glutathione in the urine, and is a rare inborn error of... more...
More information from OMIM:
231950
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Diseases related to Glutathionuria via text searches within MalaCards or GeneCards Suite gene sharing:(show all 14)
Graphical network of the top 20 diseases related to Glutathionuria:
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Human phenotypes related to Glutathionuria:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:231950 (Updated 05-Mar-2021)GenomeRNAi Phenotypes related to Glutathionuria according to GeneCards Suite gene sharing:26 (show all 38)
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Cochrane evidence based reviews: glutathionuria |
Articles related to Glutathionuria:(show all 13)
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Genes related to Glutathionuria (1 elite genes):(show all 12) - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Glutathionuria.
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Pathways related to Glutathionuria according to GeneCards Suite gene sharing:
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Cellular components related to Glutathionuria according to GeneCards Suite gene sharing:
Biological processes related to Glutathionuria according to GeneCards Suite gene sharing:(show all 16)
Molecular functions related to Glutathionuria according to GeneCards Suite gene sharing:
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