Primary hyperoxaluria type 1

An autosomal recessive form of primary hyperoxaluria, where CALCIUM OXALATE accumulates in different tissues, especially the KIDNEY, resulting in RENAL FAILURE. Mutations in the AGXT gene have been identified. OMIM: 259900

Also Known As:

Alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria; Hepatic AGT Deficiency; Hyperoxaluria, Primary, Type I; Oxalosis 1; Oxalosis I; Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency; Peroxisomal alanine glyoxylate aminotransferase deficiency; Serine:Pyruvate Aminotransferase Deficiency

Urogenital Diseases: 129
- Urologic Diseases: 817
  - Kidney Diseases: 12764
    - Hyperoxaluria: 1484
      - Primary Hyperoxaluria: 715
        Primary hyperoxaluria type 1: 374
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 817
      - Kidney Diseases: 12764
        Hyperoxaluria: 1484
        Primary Hyperoxaluria: 715
        Primary hyperoxaluria type 1: 374
- Male Urogenital Diseases
  - Urologic Diseases: 817
    - Kidney Diseases: 12764
      - Hyperoxaluria: 1484
        Primary Hyperoxaluria: 715
        Primary hyperoxaluria type 1: 374
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Carbohydrate Metabolism
      - Primary Hyperoxaluria: 715
        Primary hyperoxaluria type 1: 374
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Carbohydrate Metabolism
      - Primary Hyperoxaluria: 715
        Primary hyperoxaluria type 1: 374

M J Lumb Selected Research

M J Lumb Research Topics

Disease

Drug/Important Bio-Agent (IBA)