MEDYMOLOGY
ARBOR VITAE FOR HEALTH SCIENCES
Alkaptonuria (ochronosis)
Etymology:
From German Alkapton, coined by Boedeker (1861) as "an admittedly somewhat barbaric combination" of Alkali (“alkali”) + Gr. kápton, neuter present participle of Gr. káptō: “to gulp down”, after the tendency of alkapton to strongly react with oxygen in alkaline solution.
1) ^ C. Boedeker (1861), “Das Alkapton; ein Beitrag zur Frage: welche Stoffe des Harns können aus einer alkalischen Kupfer oxydlösung Kupferoxydul reduciren? [Alkapton; a contribution to the question: which substances in urine can reduce copper oxide from an alkaline copper oxide solution?]”, in Annalen der Chemie und Pharmacie[1], volume 117, page 101
Definition:
A rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase; if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidized form, alkapton, are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves, as well as precipitating as kidney stones and stones in other organs. Symptoms usually develop in people over 30 years old, although the dark discoloration of the urine is present from birth.
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