Cystinuria [cystinurie]
topical
45
Persistent link
https://www.medvik.cz/link/D003555
Definition
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.
- DUI
- D003555 MeSH Browser
- CUI
- M0005557
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification 1
- CO
- complications 6
- DI
- diagnosis 19
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy 6
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology 2
- EH
- ethnology
- ET
- etiology 7
- GE
- genetics 9
- HI
- history
- IM
- immunology
- ME
- metabolism 1
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 1
- PP
- physiopathology 3
- PC
- prevention & control 1
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery 1
- TH
- therapy 4
- UR
- urine 3
- VE
- veterinary
- VI
- virology
...
Occurrences in Medvik records
C
Diseases
Cystinuria type 1 Disease MeSH Browser
Cystinuria, Type A Disease MeSH Browser
Hypotonia-Cystinuria Syndrome Disease MeSH Browser