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GLUTH
MCID: GLT014
MIFTS: 23
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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: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:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Nephrological diseases
ICD10:
34
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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-glutamyltransferase 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). Related phenotypes are intellectual disability and tremor UniProtKB/Swiss-Prot : 75 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 : 76 Glutathionuria is the presence of glutathione in the urine, and is a rare inborn error of... more...
Description from OMIM:
231950
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Diseases related to Glutathionuria via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:231950Human phenotypes related to Glutathionuria:32
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Articles related to Glutathionuria:
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Genes related to Glutathionuria (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Glutathionuria:6
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Search
GEO
for disease gene expression data for Glutathionuria.
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