Article
A double mutation in AGXT gene in families with primary hyperoxaluria type 1.
Gene - 1 Dec 2013
Kanoun Houda, Jarraya Faiçal, Hadj Salem Ikhlass, Mahfoudh Hichem, Chaabouni Yosr, Makni Fatma, Hachicha Jamil, Fakhfakh Faiza
Abstract excerpt
Primary hyperoxaluria type 1 (PH1) is a severe autosomal recessive inherited disorder of glyoxylate metabolism caused by mutations in the AGXT gene on chromosome 2q37.3 that encodes the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase. These mutations are found throughout the entire gene and cause a wide spectrum of clinical severity. Rare in Europe, PH1 is responsible for 13% of the end stage renal...
Topics
- Adolescent
- Adult
- Child
- Consanguinity
- Female
- Humans
- Hyperoxaluria, Primary
- Male
- Middle Aged
- Mutation
- Pedigree
- Polymorphism, Single Nucleotide