Alkaptonuria [alkaptonurie]
topical
76
- Terms
-
homogentisová acidurie
-
Alcaptonuria
Homogentisic Acid Oxidase Deficiency
Homogentisic Acidura
Persistent link
https://www.medvik.cz/link/D000474
Definition
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.
- DUI
- D000474 MeSH Browser
- CUI
- M0000717
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications 13
- DI
- diagnosis 18
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy 3
- EC
- economics
- EM
- embryology
- EN
- enzymology 2
- EP
- epidemiology 8
- EH
- ethnology 1
- ET
- etiology 12
- GE
- genetics 14
- HI
- history 1
- IM
- immunology
- ME
- metabolism 3
- MI
- microbiology
- MO
- mortality 1
- NU
- nursing
- PS
- parasitology
- PA
- pathology 4
- PP
- physiopathology 4
- PC
- prevention & control 1
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery 1
- TH
- therapy 9
- UR
- urine 3
- VE
- veterinary
- VI
- virology
...
Occurrences in Medvik records
C
Diseases
C16.320.565.100.544
Hyperlysinemias
C16.320.565.100.620
Multiple Carboxylase Deficiency
C16.320.565.100.794
Prolidase Deficiency
C18.452.648.100.544
Hyperlysinemias
C18.452.648.100.620
Multiple Carboxylase Deficiency
Alkaptonuric ochronosis Disease MeSH Browser