The molecular basis of alanine: glyoxylate aminotransferase mistargeting: the most common single cause of primary hyperoxaluria type 1.

Article

The molecular basis of alanine: glyoxylate aminotransferase mistargeting: the most common single cause of primary hyperoxaluria type 1.

Journal of nephrology - 1 Jan 2000

Danpure C J

Abstract excerpt

The autosomal recessive disease primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver-specific intermediary metabolic enzyme alanine:glyoxylate aminotransferase (AGT). In a third of all Caucasian PH1 patients, disease in caused by an unparalleled intracellular phenomenon in wh...

Topics

Genes, Recessive
Humans
Hyperoxaluria, Primary
Microbodies
Mitochondria, Liver
Mutation
Polymorphism, Genetic
Transaminases

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