Definition of Alkaptonuria

1. Noun. A rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine.

Exact synonyms: Alcaptonuria
Generic synonyms: Metabolic Disorder

Definition of Alkaptonuria

1. Noun. (medicine) A rare inherited genetic disorder of phenylalanine and tyrosine metabolism, causing the accumulation and eventual excretion of alkapton. ¹

¹ Source: wiktionary.com

Medical Definition of Alkaptonuria

1. An autosomal recessive condition due to the absence of homogentisic acid oxidase which produces an accumulation of homogentisic acid in the urine (causing it to darken on standing). Accumulation of homogentisic acid causes; ochronosis - a brown pigmentation of the skin and eyes, and arthritis. Origin: Gr. Ouron = urine (18 Jan 2007)

Lexicographical Neighbors of Alkaptonuria

alkanets
alkanium
alkanium ion
alkaniums
alkannan
alkannin
alkanoate
alkanoates
alkanoic
alkanoic acid
alkanoic acids
alkanol
alkanols
alkanoylation
alkapton
alkaptonuria (current term)
alkaptonuric
alkargen
alkarsin
alkarsine
alkatriene
alkavervir
alkekengi
alkekengis
alkene
alkene monooxygenase
alkenes
alkenoate
alkenoates
alkenoic

Literary usage of Alkaptonuria

Below you will find example usage of this term as found in modern and/or classical literature:

1. Monographic Medicine by William Robie Patten Emerson, Guido Guerrini, William Brown, Wendell Christopher Phillips, John Whitridge Williams, John Appleton Swett, Hans Günther, Mario Mariotti, Hugh Grant Rowell (1916)
"The Homogentisic-acid Diathesis (a) Nature of the Diathesis and of alkaptonuria This is clinically the most important amino-acid diathesis that has thus far ..."

2. The Principles and Practice of Medicine: Designed for the Use of by William Osler, Thomas McCrae (1912)
"... "alkaptonuria is not the manifestation of a disease, but is rather of the nature of an alternative course of metabolism, harmless and usually congenital ..."

3. Clinical Diagnosis: The Bacteriological, Chemical, and Microscopical by Rudolf Jaksch von Wartenhorst, James Cagney (1897)
"alkaptonuria.—Although the substances with which we have to deal under this heading belong ... By the term alkaptonuria is meant the condition in which the ..."

4. Heredity in Relation to Eugenics by Charles Benedict Davenport (1911)
"alkaptonuria. —This condition is marked by the constant excretion of homogentisic acid which darkens upon oxydation so that the urine darkens after passage; ..."

5. Clinical Diagnosis: A Text-book of Clinical Microscopy and Clinical by Charles Phillips Emerson (1908)
"alkaptonuria—This very rare and interesting condition has of late attracted ... Most observers consider alkaptonuria as a variant of metabolism ; that the ..."

6. A Manual of the Practice of Medicine: Prepared Especially for Students by Arthur Albert Stevens (1892)
"alkaptonuria.—This very rare condition results from a congenital inability to ... alkaptonuria is harmless, but occasionally leads to blackening of the ..."

7. Chemical Pathology: Being a Discussion of General Pathology from the by Harry Gideon Wells (1914)
"... alkaptonuria may be appropriately considered in this connection, since it depends on an abnormal metabolism of the aromatic groups, 37 Ann. Inst. ..."

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