Cystinuria

An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.

Also Known As:

Cystinurias

Urogenital Diseases: 126
- Urologic Diseases: 799
  - Kidney Diseases: 12250
    - Inborn Errors Renal Tubular Transport
      - Renal Aminoacidurias: 6
        Cystinuria: 736
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 799
      - Kidney Diseases: 12250
        Inborn Errors Renal Tubular Transport
        Renal Aminoacidurias: 6
        Cystinuria: 736
- Male Urogenital Diseases
  - Urologic Diseases: 799
    - Kidney Diseases: 12250
      - Inborn Errors Renal Tubular Transport
        Renal Aminoacidurias: 6
        Cystinuria: 736
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Renal Tubular Transport
    - Renal Aminoacidurias: 6
      - Cystinuria: 736

J H Parks Selected Research

J H Parks Research Topics

Disease

Drug/Important Bio-Agent (IBA)