" /> Hyperoxaluria, primary, type II - CISMeF





Preferred Label : Hyperoxaluria, primary, type II;

Symbol : HP2;

CISMeF acronym : HP2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glyceric aciduria; D-glycerate dehydrogenase deficiency; Glyoxylate reductase/hydroxypyruvate reductase deficiency; Oxalosis II;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (GRHPR, 604296.0001);

Laboratory abnormalities : Increased urinary oxylate; Increased urinary L-glycerate; Decreased GRHPR activity;

Prefixed ID : #260000;

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27/07/2025


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