U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Primary hyperoxaluria, type II

Primary hyperoxaluria, type II

Synonyms
D-glycerate dehydrogenase deficiency; Glyceric aciduria; Glyoxylate reductase/hydroxypyruvate reductase deficiency; OXALOSIS II; Oxalosis 2; Primary hyperoxaluria type 2
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Primary Hyperoxaluria Type 2
Primary hyperoxaluria type 2 (PH2), caused by deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GR/HPR), is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis / urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), and end-stage kidney disease (ESKD). After ESKD, oxalosis (widespread tissue deposition of calcium oxalate) usually develops. Symptom onset is typically in childhood.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Gill Rumsby
Sally-Anne Hulton
view full author information

Available tests

62 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (61 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: GLXR, GLYD, PH2, GRHPR
    Summary: glyoxylate and hydroxypyruvate reductase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.