Primary hyperoxaluria

Definition:

Primary hyperoxaluria (PH) is an autosomal recessive disorder characterized by the overproduction of oxalate.

References:

[1]. Christopher J Danpure, et al. Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways. Biochim Biophys Acta. 2006 Dec;1763(12):1776-84. [Content Brief]

[2]. K Nishiyama, et al. Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. Biochem Biophys Res Commun. 1991 May 15;176(3):1093-9. [Content Brief]

[3]. M J Kemper, et al. Primary hyperoxaluria type 2. Eur J Pediatr. 1997 Jul;156(7):509-12. [Content Brief]

[4]. S D Cramer, et al. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. Hum Mol Genet. 1999 Oct;8(11):2063-9. [Content Brief]

[5]. Saoussen M'dimegh, et al. HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients. J Clin Lab Anal. 2017 May;31(3):e22053. [Content Brief]

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