Genetic counseling is the process of providing individuals Alkaptonuria is inherited in an autosomal recessive manner. – ALKAPTONURIA; AKU – HOMOGENTISIC ACID OXIDASE in the homogentisate 1,2-dioxygenase gene (HGD; ) on chromosome 3q Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein.

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Alcaptonuria and sucrase-isomaltase deficiency in three offspring of a consanguineous marriage. Two individuals had transient elevations in liver transaminase levels that returned to normal after stopping nitisinone [ Suwannarat et al ].

Journal of Cellular Physiology Differential diagnosis includes acute intermittent porphyria, rheumatoid arthritis, ankylosing spondylitis see these terms and osteoarthritis. The severity of the symptoms and response to treatment can be quantified through a validated questionnaire titled the AKU Severity Score Index.

GeneReviews staff have not independently verified the classification of variants. Alkaptonuria affects males and females in equal numbers, although symptoms tend to develop sooner and become more severe in males.

Ochronotic arthritis is a regular manifestation of longstanding alkaptonuria. Mutations in brief No.


Diagnostic methods Diagnosis is suspected upon clinical examination and alkaptonura based on the amount of HGA found in the urine using gas chromatography-mass spectroscopy.

The diagnosis of alkaptonuria is made upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.

Molecular defects in alkaptonuria. Tissue damage results from the deposition of a melanin-like pigment, which is a polymerised form of BQA, that has a high affinity for connective tissue. New England Journal of Medicine Research on ochronosis in this monogenic disease can help to elucidate the molecular pathogenesis of the more common varieties of osteoarthritis, particularly the biochemical and structural changes at its initial stages.


In individuals older than age 40 years, echocardiography to detect aortic dilation, aortic or mitral valve calcification, and stenosis; CT to detect coronary artery calcification.

Long-term therapy in young patients with alkaptonuria is indicated. In some cases, the genrtics of the eyes sclera may also become discolored.

Over time, affected tissue becomes discolored, brittle alkaptonuriia weak. This has included studies on the use of nitisinone and investigations into antioxidants to inhibit ochronosis. Unlike cardiac valve disease that occurs in the general population, there is no correlation with standard cardiovascular risk factors.

Ochronotic prostate stones appear on radiography; kidney stones can be identified by ultrasonography and helical abdominal CT.

Allelic heterogeneity of alkaptonuria in Central Europe. In the Slovak population, evidence exists for mutational hot spots e.

Similar articles in PubMed. Side effects were minimal. Low back pain and stiffness are common symptoms and are sometimes seen before the age of Evaluation of Relatives at Risk It is appropriate to evaluate apparently asymptomatic older and younger sibs of a proband in order to identify as early as possible those who would benefit from preventive measures. Submit a note to the editor about this article by filling in the form below.

Alkaptonuria – Wikipedia

Approximately half of individuals with alkaptonuria will require hip, knee or shoulder joint replacement, often by years of age. Alkaptonuria AKU is a prototypic inborn error in the metabolism of phenylalanine and tyrosine, characterised by the inability to metabolise homogentisic acid HGA. Differential diagnosis Differential diagnosis includes acute intermittent porphyria, rheumatoid arthritis, ankylosing spondylitis see these terms and osteoarthritis.


Physical medicine and rehabilitation evaluation if limited range of motion or joint pain occurs.

Molecular Genetics of Alkaptonuria

Information on current clinical trials is posted on the Internet at www. Because it is likely that testing alkaptonura and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals. Carnosinemia Histidinemia Urocanic aciduria. Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome: University of Washington, Seattle; Ochronosis of the antihelix and concha C.

It is appropriate to offer genetic counseling including discussion of potential risks to offspring and reproductive options to young adults who are affectedalkaptonurua carriers, or at risk. Follow us on Facebook. However, more research is necessary to determine whether nitisinone given to younger patients can prevent the gebetics of alkaptonuria as well as to determine the long-term safety and effectiveness of the drug for individuals with alkaptonuria.