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alkaptonuria

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Definition of the noun alkaptonuria

What does alkaptonuria mean as a name of something?

noun

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

Alternative definition of the noun alkaptonuria

noun

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

Printed books with definitions for alkaptonuria

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Google previewA Case Oriented Approach Towards Biochemistry (2012)

by Namrata Chhabra, Sahil Chhabra

TREATMENT Alkaptonuria is a lifelong disease.There is no cure forthe condition. Prevention is not possible and the treatment is aimed at ameliorating symptoms. Reducing intake of the amino acids phenylalanine and tyrosine to the minimum required to sustain health (phenylalanine is an essential amino acid) can help slow the progression ofthe disease.Vitamin C has been found to slow down the conversion of homogentisic acid to the polymeric deposits in cartilage and bone.

Google previewCrush Step 1 (2013)

The Ultimate USMLE Step 1 Review by Theodore X. O'Connell, Ryan A. Pedigo, Thomas E. Blair

Alkaptonuria is a disorder due to the deficiency of homogentisic acid oxidase, an enzyme in the pathway that degrades tyrosine. This leads to accumulation of homogentisic acid, causing ...

Google previewHuman Heredity , Principles and Issues - Updated (2016)

by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and.

Google previewIssues in Biological and Life Sciences Research: 2011 Edition (2012)

According to a study from Athens, Greece, “ Alkaptonuria is a rare, ...

Google previewHuman Biology (2016)

Biology, Human biology by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide, called alkapton, accumulate in the blood and are excreted in urine in large amounts ( hence uria). Fragile X syndrome, MartinBell syndrome, or Escalante's syndrome ( more ...

Google previewNutrition for Healthy Skin (2010)

Strategies for Clinical and Cosmetic Practice by Jean Krutmann, Philippe Humbert

Alkaptonuria is an autosomal recessive defect of the enzyme homogentisic acid ( or alkapton) oxidase. Cutaneous changes include a grayish-blue discoloration of the ears and the axillae (ochronosis). There can also be arthritis and darkening of the urine (due to oxydation). Eosinophilia-Myalgia-Syndrome stands for a scleroderma-like disorder with woody induration of the distal extremities that historically was observed in individuals who consumed large quantities of contaminated ...

Google previewGenetics , From Genes to Genomes (2016)

by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein.

Google previewJIMD Reports (2014)

by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters

Alkaptonuria is a rare inborn error of metabolism characterized by high circulating ...

Google previewComprehensive Radiographic Pathology - E-Book (2013)

by Ronald L. Eisenberg, Nancy M. Johnson

Alkaptonuria is a rare inborn error of metabolism in which an enzyme deficiency leads to an abnormal accumulation of homogentisic acid in the blood and urine. The urine is either very dark on voiding or becomes black after standing or being alkalinized. The disorder often goes unrecognized until middle age, when deposition ofthe black pigment of oxidized homogentisic acid in cartilage and other connective tissue produces a distinctive form of degenerative arthritis ( ochronosis).

Google previewBiology , The Dynamic Science, Volume 1, Units 1 and 2 (2016)

by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide, called alkapton, accumulate in the blood ...

Google previewPrinciples of Life (2016)

Biology, Biology by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism.

Google previewBiology (2016)

Biology, Biology by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide, called alkapton, accumulate in the blood and are excreted in urine in large amounts ( hence uria). Amino acids are molecules containing an amine group, a carboxylic acid ...

Google previewBiology, Life on Earth (2016)

by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide, called alkapton, accumulate in the blood and are excreted in urine in large amounts ( hence uria). Transcription is the first step of gene expression, in which a particular segment ...

Google previewScience in Egyptology (1986)

by Ann Rosalie David

INTRODUCTION Alkaptonuria is an autosomal recessive inherited condition resulting from an enzymatic defect in the tyrosine scheme. The absence of the enzyme homogentisic acid oxidase causes homogentisic acid to accumulate intracellularly and extracellularly in several of the connective tissues, most prominently in cartilage. In addition, surplus homogentisic acid is excreted into alkaline urine, slowly oxidizing into a black compound, and eventually discoloring the urine.

Google previewCampbell Biology , Concepts and Connections (2016)

by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide, called alkapton, accumulate in the blood and are excreted in urine in large amounts ( hence uria). Neurospora crassa is a type of red bread mould of the phylum Ascomycota.

Google previewPractical Genetic Counseling (2016)

Biology, Genetics by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein. It is caused by a mutation in the HGD gene for the enzyme homogentisate 1, 2dioxygenase (EC 1.13.11.5); if a.

Google previewAnatomy and Physiology, The Unity of Form and Function (2016)

Biology, Human biology by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1, 2dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine. As a result, homogentisic ...

Google previewLippincotts Illustrated Reviews, Biochemistry (2016)

by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine.

Google previewPrinciples of Genetics (2016)

by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder in which the body ...

Google previewCampbell Biology in Focus (2016)

Biology, Biology by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide, called alkapton, accumulate in the blood and are excreted in urine in large amounts ( hence uria). Drosophila melanogaster is a species of Fly (the taxonomic order Diptera) in ...

Google previewBiology, Concepts and Connections-Text (2016)

Biology, Biology by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition ...

Google previewThe Living World (2016)

Biology, Biology by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2dioxygenase ( EC ...

Google previewDiscover Biology (2016)

by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide, called alkapton, accumulate in the blood and are excreted in urine in large amounts ...

Google previewExamenes de Comprension de Lectura en Ingles : Medicina (1995)

Alkaptonuria is a rare hereditary disorder that maybe present with discolored urine , buta quick check of your pediatric textbook discloses that freshly passed urine of patients with alkaptonuria is normalin color and turns a dark brown or black only after ithas been standing .

Google previewDermatology (2012)

by Jean L. Bolognia, Joseph L. Jorizzo, Julie V. Schaffer

Extracutaneous findings include urine that darkens on standing and arthritis Alkaptonuria is a rare inborn error of metabolism in which homogentisic acid, an intermediate in phenylalanine and tyrosine metabolism, cannot be further metabolized and therefore accumulates in body fluids and tissues.

Google previewPigmentary Disorders (2014)

A Comprehensive Compendium by Koushik Lahiri, Manas Chatterjee, Rashmi Sarkar

Alkaptonuria. (Box. 4). Alkaptonuria is a rare metabolic disorder which occurs due to deficiency of the enzyme homogentisic acid oxidase.28 The cardinal features of the disorder include urine that turns dark on standing, pigmentation of skin, cartilage and connective tissues and arthritis predominantly involving the axial skelton.28 ...

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Scrabble value of A1L1K5A1P3T1O1N1U1R1I1A1

The value of this 12-letter word is 18 points, but it's not an accepted word in the Official Scrabble Players Dictionary.

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