Gamma-glutamyl Transpeptidase Deficiency

Description

Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

Clinical Features

Top most frequent phenotypes and symptoms related to Gamma-glutamyl Transpeptidase Deficiency

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears
  • Hyperreflexia
  • Tremor
  • Talipes equinovarus
  • Behavioral abnormality
  • Intellectual disability, mild

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Gamma-glutamyl Transpeptidase Deficiency Is also known as glutathionuria, gtg deficiency, ggt deficiency, gamma-glutamyltransferase deficiency, gamma-glutamyltranspeptidase deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Gamma-glutamyl Transpeptidase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GGT1.

By Fulgent Genetics Fulgent Genetics (United States).

GGT1
Specificity
100 %
Genes
100 %
PancreasDx.

By Ariel Precision Medicine (United States).

SPINK1, SLC26A9, CASR, UBR1, CEL, CFTR, SBDS, CLDN2, CTRC, GGT1, PRSS1, PRSS2, PRSS3
Specificity
8 %
Genes
100 %

We have -6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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