alkaptonuria
A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0020203
obsolete pigmented conjunctival lesion (obsolete MONDO:0020203)
excluded_subClassOf
MONDO:0017307
disorder of tyrosine metabolism
is_a
aku
related
alcaptonuria
exact
alkaptonuria
exact
alkaptonuric ochronosis
related
hereditary ochronosis
exact
homogentisate 1,2-dioxygenase deficiency
exact
homogentisic acid oxidase deficiency
exact
homogentisic acidura
related
ochronosis, hereditary
related