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:- 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
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of metabolism/homeostasis
- Reduced hepatic glyoxylate reductase activity
Reduced hepatic glyoxylate reductase activity
- MedGen UID: 1053899
- Concept ID: CN377470
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced hepatic glyoxylate reductase activity
- Abnormality of the genitourinary system
- Hematuria
Hematuria
- MedGen UID: 5488
- Concept ID: C0018965
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hyperoxaluria
Hyperoxaluria
- MedGen UID: 43782
- Concept ID: C0020500
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Nephrocalcinosis
Nephrocalcinosis
- MedGen UID: 10222
- Concept ID: C0027709
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Nephrolithiasis, calcium oxalate
Nephrolithiasis, calcium oxalate
- MedGen UID: 318935
- Concept ID: C1833683
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hematuria
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