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General Information (adopted from Orphanet):

Synonyms, Signs:	GAMMA-GLUTAMYLTRANSFERASE DEFICIENCY GAMMA-GLUTAMYLTRANSPEPTIDASE DEFICIENCY GTG DEFICIENCY GGT DEFICIENCY Glutathionuria
Number of Symptoms	6
OrphanetNr:	33573
OMIM Id:	231950
ICD-10:	E72.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	7 cases [Orphanet]
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Disorder of the gamma-glutamyl cycle
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	DB Freq
1	(HPO:0001249)	Intellectual disability	1089 / 7739
2	(HPO:0001939)	Abnormality of metabolism/homeostasis	328 / 7739
3	(OMIM)	Gamma-glutamyltranspeptidase deficiency	1 / 7739
4	(HPO:0000007)	Autosomal recessive inheritance	2538 / 7739
5	(OMIM)	Glutathionuria	1 / 7739
6	(OMIM)	Glutathionemia	1 / 7739

Additional Information:

Clinical Description OMIM

Gamma-glutamyltranspeptidase (see GGT1; 612346) acts as a glutathionase and catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. This enzyme is located on the outer surface of the cell ... Gamma-glutamyltranspeptidase (see GGT1; 612346) acts as a glutathionase and catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. This enzyme is located on the outer surface of the cell membrane. It is widely distributed in mammalian tissues involved in absorption and secretion. In humans, hepatic GGT activity is elevated in some liver diseases. GGT is released into the bloodstream after liver damage, and an elevated level of the enzyme may be a useful early sign of hepatocellular carcinoma. Schulman et al. (1975) described a mildly retarded adult male with glutathionemia and marked glutathionuria, whose cultured skin fibroblasts showed very low activity of the transpeptidase. Since several studies have suggested that the transpeptidase may play a role in cellular amino acid transport, the lack of amino aciduria and amino acidemia was noteworthy. O'Daley (1968) may have described the same condition. Hammond et al. (1995) reported sisters with GGT deficiency. The elder of the 2 sibs was detected during the course of a population screening on infants at 6 weeks of age using ascending paper chromatography of urine, which revealed a migration spot similar to that of cystine. Her growth and development were normal. During the second year, easy bruising was noted. Asthma was diagnosed at 2.5 years but was never a major problem. At 10 years of age, she began having attacks of absence and an EEG showed typical 3-Hz spike and wave activity. Seizures were controlled by valproate medication. At age 21 years, she had no significant health problems, had a good secretarial position, and was pursuing a course at technical college. The younger sister was somewhat hypotonic and inactive at birth and had a dislocated hip and mild bilateral equinovarus. Tube feeding was required for the first 4 months. Problems noted later included strabismus, easy bruising, poor coordination, and some dysmorphic features. A diagnosis of Prader-Willi syndrome (PWS; 176270) was confirmed by demonstration of an interstitial deletion of 15q11-q13. Both sisters had normal red cell glutathione and no Heinz bodies. Clearly there were no specific clinical indicators for GGT deficiency, which in the younger sister was unrelated to PWS.

Gamma-glutamyl transpeptidase deficiency

General Information (adopted from Orphanet):

Prevalence, inheritance and age of onset:

Disease classification (adopted from Orphanet):

Symptom Information: Sort by abundance

Associated genes:

ClinVar (via SNiPA)

Additional Information:

Symptoms & Signs

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