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GLUTH
MCID: GLT014
MIFTS: 39
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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:56
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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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33573 Definition A disorder that is characterized by increased glutathione concentration in the plasma and urine. Epidemiology Gamma-glutamyl transpeptidase deficiency has been detected in seven patients in five families worldwide. Clinical description Five of the patients also had central nervous system involvement. Etiology Gamma-glutamyl transpeptidase catalyses the first step in the degradation of glutathione. No mutations have been identified in patients with gamma-glutamyl transpeptidase deficiency. Diagnostic methods The 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 counseling As the disease is transmitted as an autosomal recessive trait , patients should be offered genetic counseling. Management and treatment No specific treatment has been proposed or tested. Prognosis The 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 cataract. An important gene associated with Glutathionuria is GGT1 (Gamma-Glutamyltransferase 1), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Folate Metabolism. Affiliated tissues include testes, and 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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Human phenotypes related to Glutathionuria:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:231950GenomeRNAi Phenotypes related to Glutathionuria according to GeneCards Suite gene sharing:26 (show all 30)
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Cochrane evidence based reviews: glutathionuria |
MalaCards organs/tissues related to Glutathionuria:40
Testes
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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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ClinVar genetic disease variations for Glutathionuria:6
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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 15)
Molecular functions related to Glutathionuria according to GeneCards Suite gene sharing:
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