Search on: ALKAPTONURIA 
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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 

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