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CYSTINURIA
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DeCS
Descriptor
English
:
Cystinuria
Descriptor
Spanish
:
cistinuria
Descriptor
Portuguese
:
Cistinúria
Synonyms
English
:
Cystinurias
Tree Number:
C12.777.419.815.885.250
C13.351.968.419.815.885.250
C16.320.565.861.885.250
C18.452.648.861.885.250
Definition
English
:
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.
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology
Record Number:
3573
Unique Identifier:
D003555
Occurrence in VHL
:
Similar:
DeCS