gamma-Glutamyltransferase deficiency
- Synonyms
- GAMMA-GLUTAMYLTRANSPEPTIDASE DEFICIENCY; GGT DEFICIENCY; GGT1 deficiency; GLUTATHIONURIA; GTG DEFICIENCY; Gamma-glutamyl transpeptidase deficiency; Glutathioninuria
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Reduced gamma-glutamyltransferase level
Reduced gamma-glutamyltransferase level
- MedGen UID: 1842159
- Concept ID: C5826398
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced tissue gamma-glutamyltransferase activity
Reduced tissue gamma-glutamyltransferase activity
- MedGen UID: 1864034
- Concept ID: C5937340
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced gamma-glutamyltransferase level
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Constipation
- Abnormality of the eye
- Hypotelorism
Hypotelorism
- MedGen UID: 96107
- Concept ID: C0424711
- Finding: Finding
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypotelorism
- Abnormality of the genitourinary system
- Glutathione high in urine
Glutathione high in urine
- MedGen UID: 1830244
- Concept ID: C5779509
- Finding: Finding
Abnormality of the genitourinary system
- Glutathione high in urine
- Abnormality of the immune system
- Asthma
Asthma
- MedGen UID: 2109
- Concept ID: C0004096
- Finding: Disease or Syndrome
Abnormality of the immune system
- Eczematoid dermatitis
Eczematoid dermatitis
- MedGen UID: 3968
- Concept ID: C0013595
- Finding: Disease or Syndrome
Abnormality of the immune system
- Asthma
- Abnormality of the nervous system
- Action tremor
Action tremor
- MedGen UID: 65875
- Concept ID: C0234376
- Finding: Sign or Symptom
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Dysdiadochokinesis
Dysdiadochokinesis
- MedGen UID: 115975
- Concept ID: C0234979
- Finding: Sign or Symptom
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Gray matter heterotopia
Gray matter heterotopia
- MedGen UID: 452349
- Concept ID: C0266491
- Finding: Finding
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Tremor
Tremor
- MedGen UID: 21635
- Concept ID: C0040822
- Finding: Sign or Symptom
Abnormality of the nervous system
- Action tremor
- Constitutional symptom
- Urinary incontinence
Urinary incontinence
- MedGen UID: 22579
- Concept ID: C0042024
- Finding: Finding
Constitutional symptom
- Urinary incontinence
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