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ALKAPTONURIA
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DeCS
Descriptor
English
:
Alkaptonuria
Descriptor
Spanish
:
Alcaptonuria
Descriptor
Portuguese
:
Alcaptonúria
Synonyms
English
:
Alcaptonuria
Homogentisic Acid Oxidase Deficiency
Homogentisic Acidura
Alcaptonurias
Tree Number:
C16.320.565.100.187
C18.452.648.100.187
Definition
English
:
An inborn error of amino acid
metabolism
resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of
PHENYLALANINE
and
TYROSINE
. It is characterized by accumulation of
HOMOGENTISIC ACID
in the urine,
OCHRONOSIS
in various
tissues
, and
ARTHRITIS.
See Related
English
:
Homogentisate 1,2-Dioxygenase
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:
476
Unique Identifier:
D000474
Occurrence in VHL
:
Similar:
DeCS
CID-10
LILACS