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alkaptonuria

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 ...

Google previewPigmentary Disorders (2014)

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

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 ...

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 previewProtein Biotechnology (2006)

by Ashok Kumar

ALKAPTONURIA is an inherited disorder caused by the absence of homogentisic oxidase, a condition in which homogentisate accumulates and is excreted in the urine. Upon standing, the urine of these individuals turns dark because the ...

Google previewGreen's Operative Hand Surgery (2010)

Expert Consult: Online and Print by Scott W. Wolfe, William C. Pederson, Robert N. Hotchkiss, Scott H. Kozin, Mark S Cohen

Ochronosis Alkaptonuria is an extremely rare autosomal recessive defect of. 2069 PART Other Crystalline Tenosynovitides Pseudogout ...

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 ...

Google previewEssential Biology (2016)

by CTI Reviews

Alkaptonuria: 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 ...

Google previewAnatomy and Physiology, A Unity of Form and Function (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 ...

Google previewCampbell Biology in Focus (2016)

by CTI Reviews

Alkaptonuria is a rare inherited genetic disorder ...

Google previewBiochemistry, The Molecular Basis of Life (2016)

Biology, Biochemistry 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 ...

Google previewGenetics (2005)

by A. V. S. S. Sambamurty

Alkaptonuria is a useful model for discussion of inborn errors of metabolism discovered by Archibald Garrod in 1909. One of the end points of phenylalanine and tyrosine metabolism is the breakdown of homogentisic acid to CO, and H2O.

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 ...

Google previewInherited Metabolic Disease in Adults (2016)

A Clinical Guide by Professor of Internal Medicine Division of Endocrinology and Metabolism Carla E M Hollak, Robin Lachmann, Consultant in Metabolic Medicine Head of Charles Dent Metabolic Unit Robin Lachmann

Although alkaptonuria is a disorder of tyrosine degradation, tyrosine and other catabolic intermediates are not elevated. Plasma and urine amino acids are normal. The gene for homogentisate 1,2-dioxygenase, HGD, was identified in 1996.20 ...

Google previewCampbell Essential Biology (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 ...

Google previewEssentials of Genetics (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. It is caused by a mutation in the HGD gene for the enzyme homogentisate 1, 2dioxygenase ...

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 ...

Google previewClinical Chemistry (2013)

Principles, Techniques, and Correlations by Michael L. Bishop, Edward P. Fody, Larry E. Schoeff

Alkaptonuria is an inborn metabolic disease transmit— ted as an autosomal recessive gene, the HGD gene, which...

A predominant clinical manifestation of alkaptonuria is that the patient's urine turns brownishblack when it CHAPTER 11 ...

Google previewA Concise Review of Clinical Laboratory Science (2011)

by Joel Hubbard

Alkaptonuria is a rare disorder caused by a lack of the enzyme homogentisic acid oxidase. This enzyme is required for the catabolism of tyrosine and phenylalanine. In this disorder, homogentisic acid is excreted into the urine. The urine is ...

Google previewHuman Heredity, Principles and Issues (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. It is caused by a mutation in the HGD gene for the enzyme homogentisate 1, 2dioxygenase ...

Google previewPrinciples of Molecular Medicine (2007)

by Marschall S. Runge, Cam Patterson

Alkaptonuria is a rare (1:250,000) autosomal-recessive metabolic disorder resulting from a deficiency of homogentisic acid oxidase (HGO), the sole enzyme catabolizing homogentisic acid (HGA). Excessive HGA is excreted in the urine and ...

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. It is caused by a mutation in the HGD gene for the enzyme homogentisate 1, 2dioxygenase ...

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 homogentisic acid (HGA) due to ...

Google previewComprehensive Radiographic Pathology (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 ...

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 ...

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 ...

Google previewThe Science of Signs and Symptoms (2016)

In Relation to Modern Diagnosis and Treatment: A Textbook for General Practitioners of Medicine by Robert John Stewart McDowall

Alkaptonuria is an inborn error of metabolism—“Chemical malformation ” of Garrod. Like cystinuria, it tends to be inherited. The urine, which darkens on standing to a dark green and which therefore stains the linen, contains homogentisic acid.

Google previewBiochemistry Made Easy: A Problem-Based Approach (2012)

by N Haridas

Alkaptonuria is an in born error of metabolism: ...

Google previewAdventures in Chemistry (2016)

by CTI Reviews

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

Google previewCardiovascular Genetics and Genomics for the Cardiologist (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 ...

Google previewPrinciples of Genetics (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 1,2-dioxygenase (EC 1.13.11.5), which participates in the ...

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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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