Gamma-glutamyl transpeptidase deficiency ( Glutathionuria )

It's a rare disease which normally occurs during childhood, 1 in 1 000 000 residents is affected.
Transmission: Autosomal recessive
It belongs to the Group of Endocrine, nutritional and metabolic diseases disorders.
The gene involved is gamma-glutamyltransferase 1 ("GGT1")
Classified by:
ENSEMBL ("ENSG00000100031")
GENATLAS ("GGT1")
HGNC ("4250")
REACTOME ("P19440")
OMIM ("612346")
UNIPROTKB/SWISSPROT ("P19440")

Ultimo aggiornamento :
01-07-2014
Orphanumber :
33573
Credits: Orphanet

To access the topics of this disease please insert your user name and password.
If you're new JOIN NOW!
Registration is free, anonymous and open to all.

See you soon!