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Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. ... Mutations in the HGD gene cause alkaptonuria.
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ghr.nlm.nih.gov/condition=alkaptonuria
ghr.nlm.nih.gov/condition=alkaptonuria
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About Site Map Contact Us ... A service of the U.S. National Library of Medicine® ... Genetic Conditions > alkaptonuria >
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ghr.nlm.nih.gov/condition=alkaptonuria/show/Related+Gen...
ghr.nlm.nih.gov/condition=alkaptonuria/show/Related+Gene(s)
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unknown in terms of who carries the gene for alkaptonuria. ... John is homozygous and inherited one copy of the alkaptonuria gene from each parent. ...
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www.dnaftb.org/dnaftb/concept_13/con13problem.swf
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Beltrán-Valero de Bernabé D., Peterson P., Luopajarvi K., Matintalo P., Alho A., Konttinen Y., Krohn K., Rodríguez de Córdoba S., Ranki A. (1999) Mutational analysis of the HGO gene in Finnish alkaptonuria patients.
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www.alkaptonuria.cib.csic.es/alkaptonuria.htm
www.alkaptonuria.cib.csic.es/alkaptonuria.htm
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Mutations in the HGD gene can cause the rare disorder alkaptonuria. The gene usually produces an enzyme that breaks down a substance called homogentisic acid.
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www.dnalc.org/view/15398-Chromosome-3-gene-associated-w...
www.dnalc.org/view/15398-Chromosome-3-gene-associated-with-alkaptonuria-Matt-Ridley.html
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Submit a response ... No responses publishe ... This article is FREE for registered users. Please log in or complete a one-time Registration process.
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pmj.bmj.com/cgi/content/full/80/946/493
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How common is alkaptonuria? ... Mutations in the HGD gene cause alkaptonuria. ... The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair...
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www.medicinenet.com/alkaptonuria/article.htm
www.medicinenet.com/alkaptonuria/article.htm
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A defect in the HGD gene causes alkaptonuria. ... Alkaptonuria is inherited, which means it is passed down from parents to their children. To get this disease, each of your parents must pass you a copy of the faulty HGD gene.
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www.umm.edu/ency/article/001200.htm
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AIMS: To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea. ... To Print: Click your browser's PRINT button. ... Fragments showing aberrant mobility were directly sequenced.
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www.medscape.com/medline/abstract/10340975?prt=true
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