Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0451641 (
urolithiasis
)
3,973
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Alkaptonuria
is a rare autosomal recessive disorder of tyrosine metabolism. Deficiency of homogentisate 1,2 dioxygenase results in accumulation of oxidized homogentisic acid in the connective tissues of the skin, eyes and ears, musculoskeletal system, and cardiac valves, and in
urolithiasis
. Excretion of excessive homogentisic acid in urine causes dark-colored urine on exposure to air. We present a case of
alkaptonuria
with multiple system involvement, who presented with lower urinary tract symptoms secondary to vesical and prostatic calculi.
...
PMID:Alkaptonuric Ochronosis. 2781 2
