Glutathionuria: Difference between revisions
No edit summary Tag: visualeditor-wikitext |
CSV import |
||
| Line 1: | Line 1: | ||
{{SI}} | |||
{{Infobox medical condition | |||
| name = Glutathionuria | |||
| image = [[File:Glutathion.svg|alt=Glutathione structure]] | |||
| caption = Structure of [[glutathione]] | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[intellectual disability]], [[ataxia]], [[seizures]] | |||
| onset = [[Infancy]] or [[early childhood]] | |||
| duration = [[Chronic]] | |||
| causes = [[Genetic mutation]] in the [[GGT1]] gene | |||
| diagnosis = [[Urine test]], [[genetic testing]] | |||
| differential = [[Glutathione synthetase deficiency]], [[gamma-glutamyl transpeptidase deficiency]] | |||
| treatment = [[Supportive care]], [[symptomatic treatment]] | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
}} | |||
'''Other Names:''' Gamma-glutamyltranspeptidase deficiency; GGT deficiency; GGT1 deficiency; GTG deficiency; Gamma-glutamyltransferase deficiency | '''Other Names:''' Gamma-glutamyltranspeptidase deficiency; GGT deficiency; GGT1 deficiency; GTG deficiency; Gamma-glutamyltransferase deficiency | ||
A disorder that is characterized by increased [[glutathione]] concentration in the [[plasma]] and urine. | A disorder that is characterized by increased [[glutathione]] concentration in the [[plasma]] and urine. | ||
== '''Epidemiology''' == | == '''Epidemiology''' == | ||
Gamma-glutamyl transpeptidase deficiency has been detected in seven patients in five families worldwide. | Gamma-glutamyl transpeptidase deficiency has been detected in seven patients in five families worldwide. | ||
== '''Cause''' == | == '''Cause''' == | ||
Gamma-glutamyl transpeptidase catalyses the first step in the degradation of [[glutathione]]. No mutations have been identified in patients with gamma-glutamyl transpeptidase deficiency. | Gamma-glutamyl transpeptidase catalyses the first step in the degradation of [[glutathione]]. No mutations have been identified in patients with gamma-glutamyl transpeptidase deficiency. | ||
== '''Inheritance''' == | |||
As the disease is transmitted as an [[autosomal recessive]] trait, patients should be offered genetic counseling. | As the disease is transmitted as an [[autosomal recessive]] trait, patients should be offered genetic counseling. | ||
== '''Signs and symptoms''' == | == '''Signs and symptoms''' == | ||
Five of the patients also had [[central nervous system]] involvement. | Five of the patients also had [[central nervous system]] involvement. | ||
== '''Diagnosis''' == | == '''Diagnosis''' == | ||
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. | 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. | ||
== '''Treatment''' == | == '''Treatment''' == | ||
No specific treatment has been proposed or tested. | No specific treatment has been proposed or tested. | ||
== '''Prognosis''' == | == '''Prognosis''' == | ||
The prognosis of gamma-glutamyl transpeptidase deficiency is hard to predict as only seven patients have been described worldwide. | The prognosis of gamma-glutamyl transpeptidase deficiency is hard to predict as only seven patients have been described worldwide. | ||
{{Eicosanoid metabolism disorders}} | {{Eicosanoid metabolism disorders}} | ||
[[Category:Eicosanoid metabolism disorders]] | [[Category:Eicosanoid metabolism disorders]] | ||
Latest revision as of 01:47, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Glutathionuria | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, intellectual disability, ataxia, seizures |
| Complications | N/A |
| Onset | Infancy or early childhood |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation in the GGT1 gene |
| Risks | N/A |
| Diagnosis | Urine test, genetic testing |
| Differential diagnosis | Glutathione synthetase deficiency, gamma-glutamyl transpeptidase deficiency |
| Prevention | N/A |
| Treatment | Supportive care, symptomatic treatment |
| Medication | N/A |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | N/A |
Other Names: Gamma-glutamyltranspeptidase deficiency; GGT deficiency; GGT1 deficiency; GTG deficiency; Gamma-glutamyltransferase deficiency
A disorder that is characterized by increased glutathione concentration in the plasma and urine.
Epidemiology[edit]
Gamma-glutamyl transpeptidase deficiency has been detected in seven patients in five families worldwide.
Cause[edit]
Gamma-glutamyl transpeptidase catalyses the first step in the degradation of glutathione. No mutations have been identified in patients with gamma-glutamyl transpeptidase deficiency.
Inheritance[edit]
As the disease is transmitted as an autosomal recessive trait, patients should be offered genetic counseling.
Signs and symptoms[edit]
Five of the patients also had central nervous system involvement.
Diagnosis[edit]
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.
Treatment[edit]
No specific treatment has been proposed or tested.
Prognosis[edit]
The prognosis of gamma-glutamyl transpeptidase deficiency is hard to predict as only seven patients have been described worldwide.
| Eicosanoid metabolism disorders | ||||||
|---|---|---|---|---|---|---|
|
This article is a medical sign stub. You can help WikiMD by expanding it!
NIH genetic and rare disease info[edit]
Glutathionuria is a rare disease.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
|
Rare diseases - Glutathionuria
|
