1. Mendelian
  2. Rare Diseases
  3. GLUTATHIONURIA

Gamma-glutamyl Transpeptidase Deficiency

Table of contents:

Description

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

Genes related to Gamma-glutamyl Transpeptidase Deficiency

  • GGT1

View recommended genes panels

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

— Currently we don't have prevalence information about this disease (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.

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 %

You can get up to -6 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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