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Gene Symbol: AGXT Disease: Primary Hyperoxaluria type I

✍ Scribed by A. Amoroso; D. Pirulli; D. Puzzer; L. Ferri; S. Crovella; C. Ferrettini; M. Marangella; G. Mazzola; F. Florian

Book ID: 106137182
Publisher: Springer
Year: 1999
Tongue: English
Weight: 11 KB
Volume: 104
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050984

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Primary hyperoxaluria type 1 (PH1) is a rare autosomal (2q37.3) recessive metabolic disease caused by a deficiency of the hepatic peroxisomal enzyme alanine:glyoxylate amino transferase. Molecular heterogeneity is important in PH1 as most of the patients (if the parents are unrelated) are compound h