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Definition of the noun alcaptonuria
What does alcaptonuria mean as a name of something?
- a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
Printed dictionaries and other books with definitions for alcaptonuria
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by Helen M Free
Alcaptonuria is an inborn error of metabolism in which homogentisic acid is excreted in the urine in relatively large amounts. This material is a reducing agent, and as such, if it is present in high concentrations, it will interfere with the ...
A Reference for the Education of Children, Adolescents, and Adults with Disabilities and Other Exceptional Individuals, 3 Volume Set by Cecil R. Reynolds, Elaine Fletcher-Janzen
Alcaptonuria is a condition in which large quantities of homogentisic acid are excreted into the urine, which turns black on standing. Under normal conditions, the amino acid tyrosine is converted through a series of enzymatic reactions to fumarate and acetoacetate (La Du, 1966). Garrod noted that when ...
The genetics problem solver (1987)
Alcaptonuria is an inborn error of metabolism due to a lack of the enzyme . 26. When homogentisate is oxidized, it is converted to a compound. 27. A repressor molecule interacts with the molecule of a given gene to inhibit its enzyme synthesis. ANSWER To be covered when testing yourself melanin Galactosemia galactose 1- phosphate uridyl transferase autosomal Phenylketonuria phenyl pyruvic acid mental retardation homogentisate oxidase melanin-like DNA SHORT ANSWER ...
by Billy Dickson, Graham Moffat
Page 11 HTP Page 64 Processing A 10 Alcaptonuria is a disorder in which a metabolic block causes a failure to produce the enzyme that catalyses the breakdown of homogentisate into maleylacetoacetate, as shown in the metabolic pathway below. From the information given, which row in the table below. What is the average reduction in mean sperm count per ...
Alcaptonuria is a rare hereditary disease characterized by the presence of homocysteic acid in the urine and subsequent development of degenerative joint disease (Krane, 1984). The disorder is accompanied by pigmentation of the connective tissues, particularly of cartilage. The metabolic defect is caused by a deficiency in the enzyme homogentisic acid oxidase, which catalyzes the conversion of homogentisic acid to maleylacetoacetic acid (LaDu, 1978). Homogentisic ...
Medical Biochemistry (2002)
by N. V. Bhagavan
Alcaptonuria is a rare metabolic hereditary disease in which homogentisic acid is eliminated in urine, ...
How the experimental method shaped life sciences by Pierre V. Vignais, Paulette M. Vignais
Alcaptonuria is a non-serious genetic flaw that can be detected easily by a blackening of the urine. It is the result of a blockage caused by the mutation of an enzyme involved in the catabolism of an amino acid, tyrosine, this blockage leading to the accumulation of homogentisic acid, the polymerization of which gives rise to a brownish color. The patient 286 DISCOVERING ...
Concise Medical Dictionary (2015)
by Elizabeth Martin
alcaptonuria. (alkaptonuria) n. the congenital absence of an enzyme, homogentisic acid oxidase, that is essential for the normal breakdown of the amino acids tyrosine and phenylalanine. Accumulation of *homogentisic acid causes dark brown discoloration of the skin and eyes (ochronosis) and progressive damage to the joints, especially of the spine. The gene responsible for the condition is recessive, so that a child is affected only if both parents are carriers of the defective gene.
by Joseph Segen
alcaptonuria. Alkaptonuria, see there. Alcelam. Alprazolam, see there. alcohol.
Dictionary of Zoology (1999)
by Sudhir Pradhan
by David A. Bedworth, Albert E. Bedworth
ALCAPTONURIA An inherited metabolic q.v. disorder. Alcaptonurics excrete excessive amounts of homogentisic acid (alcapton) in the urine.
by D A Bender
alcaptonuria (alkaptonuria) A genetic disease of phenylalanine and tyrosine metabolism, owing to lack of the enzyme homogentisic acid oxidase (EC 188.8.131.52). As a result, homogentisic acid accumulates and is excreted in the urine; ...
by Pei-Show Juo
Alcaptonuria A metabolic disease in which the homogentisic acid oxidase is absent leading to the secretion of homogentisic acid in the urine. AlcDH Abbreviation for alcohol dehydrogenase. Alcian Blue (mol wt is about 1300) A basic dye used for staining glycoproteins and polysaccharides. N N N N Cu N N N X X X X X = an onium group ...
A Dictionary of Biology (2015)
by Elizabeth Martin, Robert Hine
alkaptonuria (alcaptonuria) An inherited metabolic disorder that results from a deficiency of the enzyme homogentisic acid oxidase, which is required for the complete breakdown of the amino acids tyrosine and phenylalanine. The accumulation of the intermediate product, homogentisic acid, ...
A Dictionary of Nursing (2017)
by Elizabeth A. Martin, Tanya A. McFerran
see ALCAPTONURIA. alkylating ...
by Virginia P. Studdert, Clive C. Gay, Douglas C. Blood
alcaptonuria, alkaptonuria [al-kap′′to-nu're- ] excretion intheurine ...
by Bruce C. Carlstedt, Mary J. Stanaszek, Walter F. Stanaszek
urobilin urofuscohematin urohematin urohematoporphyrin causing presence of red pigment in the urine urine with hemoglobin hemoglobinuria urine with hippuric acid hippuria excretion of abnormally large amounts urine with histidine histidinuria urine with histone histonuria observed in certain diseases urine with homogentisic acid alcaptonuria alkaptonuria urine with hyalin hyalinuria urine with hydrogen sulfide hydrothionuria urine incontinence enuresis occurring usually during ...
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Scrabble value of A1L1C3A1P3T1O1N1U1R1I1A1
The value of this 12-letter word is 16 points, but it's not an accepted word in the Official Scrabble Players Dictionary.
Anagrams of ALCAPTONURIA
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