Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism

Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism

Abstract Background Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and...

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Bibliographic Details
Main Authors: Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer
Format: Article
Language:English
Published: BMC 2017-05-01
Series:BMC Medical Genetics
Subjects:
Primary hyperoxaluria type 2
GRHPR
Oxalate
Glyoxylate reductase
Hydroxypyruvate reductase
Online Access:http://link.springer.com/article/10.1186/s12881-017-0421-8

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http://link.springer.com/article/10.1186/s12881-017-0421-8

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