alkaptonurian.

Brit.

/alˌkaptəˈnjʊərɪə/, U.S.

/ælˌkæptəˈn(j)ʊriə/

Forms: 1800s– alcaptonuria, 1800s– alkaptonuria.

Origin: Formed within English, by compounding; perhaps modelled on a German lexical item. Etymons: alkapton n., -uria comb. form.

Etymology: < alkapton n. + -uria comb. form, perhaps after German Alkaptonurie (1876 or earlier as Alcaptonurie).

Medicine.

The presence of homogentisic acid (alkapton) in the urine; an inherited (autosomal recessive) metabolic disorder characterized by this, and by ochronosis and arthritis, especially of the spine.Alkaptonuria results from a deficiency of the enzyme homogentisate oxidase, which is involved in the catabolism of the amino acid tyrosine. It is one of the first of Garrod's ‘inborn errors of metabolism’ and one of the first autosomal recessive disorders to be identified.

ΘΚΠ

the world > health and disease > ill health > a disease > disorders of internal organs > urinary disorders > [noun] > other substances in urine

pyuria1772

albuminuria1838

azoturia1838

oxaluria1844

hippuria1847

mellituria1848

cystinuria1853

phosphuria1854

phosphoruria1858

chyluria1860

glycosuria1860

bacilluria1881

acetonuria1883

urobilinuria1887

alkaptonuria1888

bacteriuria1889

melanuria1890

peptonuria1890

xanthinuria1890

indicanuria1897

postural albuminuria1897

acholuria1900

pentosuria1902

proteinuria1911

ketonuria1913

porphyrinuria1916

hypercalcuria1930

porphobilinogenuria1949

natriuresis1957

maple syrup disease1959

saluresis1959

homocystinuria1962

1888 R. Kirk in Brit. Med. Jrnl. 4 Aug. 232/2 (title) Report on a new acid found in human urine which darkens with alkalies (alcaptonuria).

1909 A. E. Garrod Inborn Errors Metabolism iii. 42 Our knowledge of alkaptonuria is dated from the year 1858, in which year Bödeker detected, in the urine of a patient with glycosuria, a second reducing substance, not a sugar.

1913 Times 12 Aug. 3/2 Other conditions which exhibit a behaviour characteristic of recessives are albinism, myoklonus, epilepsy, and alkaptonuria.

1970 Nature 21 Nov. 770/1 Adults with alcaptonuria develop a destructive arthritis secondary to the deposition of a melanin-like pigment in their connective tissues, especially skin, tendon and cartilage (ochronosis).

2002 Rheumatol. Internat. 21 205 Ochronotic arthropathy is the musculoskeletal manifestation of alkaptonuria.

This entry has been updated (OED Third Edition, September 2009; most recently modified version published online December 2021).

单词	alkaptonuria
释义	alkaptonurian. Brit. /alˌkaptəˈnjʊərɪə/, U.S. /ælˌkæptəˈn(j)ʊriə/ Forms: 1800s– alcaptonuria, 1800s– alkaptonuria. Origin: Formed within English, by compounding; perhaps modelled on a German lexical item. Etymons: alkapton n., -uria comb. form. Etymology: < alkapton n. + -uria comb. form, perhaps after German Alkaptonurie (1876 or earlier as Alcaptonurie). Medicine. The presence of homogentisic acid (alkapton) in the urine; an inherited (autosomal recessive) metabolic disorder characterized by this, and by ochronosis and arthritis, especially of the spine.Alkaptonuria results from a deficiency of the enzyme homogentisate oxidase, which is involved in the catabolism of the amino acid tyrosine. It is one of the first of Garrod's ‘inborn errors of metabolism’ and one of the first autosomal recessive disorders to be identified. ΘΚΠ the world > health and disease > ill health > a disease > disorders of internal organs > urinary disorders > [noun] > other substances in urine pyuria1772 albuminuria1838 azoturia1838 oxaluria1844 hippuria1847 mellituria1848 cystinuria1853 phosphuria1854 phosphoruria1858 chyluria1860 glycosuria1860 bacilluria1881 acetonuria1883 urobilinuria1887 alkaptonuria1888 bacteriuria1889 melanuria1890 peptonuria1890 xanthinuria1890 indicanuria1897 postural albuminuria1897 acholuria1900 pentosuria1902 proteinuria1911 ketonuria1913 porphyrinuria1916 hypercalcuria1930 porphobilinogenuria1949 natriuresis1957 maple syrup disease1959 saluresis1959 homocystinuria1962 1888 R. Kirk in Brit. Med. Jrnl. 4 Aug. 232/2 (title) Report on a new acid found in human urine which darkens with alkalies (alcaptonuria). 1909 A. E. Garrod Inborn Errors Metabolism iii. 42 Our knowledge of alkaptonuria is dated from the year 1858, in which year Bödeker detected, in the urine of a patient with glycosuria, a second reducing substance, not a sugar. 1913 Times 12 Aug. 3/2 Other conditions which exhibit a behaviour characteristic of recessives are albinism, myoklonus, epilepsy, and alkaptonuria. 1970 Nature 21 Nov. 770/1 Adults with alcaptonuria develop a destructive arthritis secondary to the deposition of a melanin-like pigment in their connective tissues, especially skin, tendon and cartilage (ochronosis). 2002 Rheumatol. Internat. 21 205 Ochronotic arthropathy is the musculoskeletal manifestation of alkaptonuria. This entry has been updated (OED Third Edition, September 2009; most recently modified version published online December 2021). < n.1888
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