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Home >> Health >> Conditions and Diseases >> Genetic Disorders >> Alkaptonuria |
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Alkaptonuria as well referred to as alkaptonuria or even ochronosis is aUncommon transmissible genetic abnormality of tyrosine metabolism. This is an autosomal recessive trait that is caused by the defect in the enzyme homogentisic acid oxidase. the enzyme commonly breaks down a toxic tyrosine byproduct, homogentisic acid (too known as alkapton), which is harmful to bones & gristle & is excreted within pee. The distinctive characteristic of alcaptonuria is that pee studied to air turns dark (or even black) fallowing many hours because of the alcapton. Around adulthood, souls suffering from either alcaptonuria evolve progressive arthritis (especially of the spine), due to its degenerative effects in bones & gristle. Bar is non imaginable & a professional assistance is aimed at ameliorating illness.
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Alkaptonuria and Ochronosis A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed. Alkaptonuria A brief discussion about this disease and its statistics world wide. Followed by a case study of a 4 year old boy, whose parents noted the darkening of the urine to an almost black color when it was left standing. MedicineNet.com : Alkaptonuria An article about this disease beginning with an explanation as to what it is, followed by how it is inherited, how it affects the joints, symptoms, diagnosis and treatment. eMedicine Online Text: Alkaptonuria An in depth look at this disorder written by Karl S Roth, MD. From a description to treatment all aspects of this disease are discussed. The Alkaptonuria Society An information and support network for those people diagnosed with Alkaptonuria. Includes discussions, articles and related resources. |
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