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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GAMT deficiency Glycine encephalopathy. In grey are indicated mutations that most likely originated in this country. However, molecular genetic testing is needed in order to provide carrier testing and prenatal test result interpretation for at-risk family members.

Alkaptonuria – NORD (National Organization for Rare Disorders)

Pigmented conjunctival lesions as initial manifestation of ochronosis. Effects of ascorbic acid in alkaptonuria: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

Therapies Under Investigation Pharmacologic treatment of alkaptonuria with oral administration of 2- 2-nitrotrifluoromethylbenzoyl -1,3-cyclohexanedione NTBC or nitisinone has been proposed [ Anikster et al ].

Dietary restriction of phenylalanine and tyrosine has been proposed to reduce the production of HGA, but severe restriction of these amino acids is not practical in the long term and may be dangerous. Specialised Social Services Eurordis directory. Elevated homogentisic acid HGA in the urine.

Twelve novel Geneticd gene variants identified in 99 alkaptonuria patients: Knee, hip, and shoulder replacement surgeries are options for managing significant arthritis.

Alcaptonuria and sucrase-isomaltase deficiency in three offspring gennetics a consanguineous marriage. However, additional symptoms usually do not appear until adulthood. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.



In allaptonuria cases, calcification of the small blood vessels that supply blood and oxygen to the heart coronary blood vessels may also occur. They based the review on an evaluation of 58 patients with the disorder ranging in age from 4 to 80 years.

Nature Structural Biology 7: For information about clinical trials sponsored by private sources, contact: Radiographs of the large joints may show joint space narrowing, subchondral cysts, and osteophyte formation. Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia. In people with alkaptonuria, both copies of the gene contain abnormalities that mean that alkaptonuira body cannot produce an adequately functioning enzyme.

Rare Disease Database

University of Washington, Seattle; Mutational analysis of the HGO gene in Finnish alkaptonuria patients. In the course of an ethylnitrosourea mutation study, Guenet and his group detected a mutation for alkaptonuria in the mouse by the finding of black wood shavings in the mouse boxes. Dietary reduction of the intake of tyrosine and phenylalanine substantially reduced the excretion of homogentisic acid.

More than 1, affected individuals have been reported in the medical literature.


Diagnosis is suspected upon clinical examination and grnetics based on the amount of HGA found in the urine using gas chromatography-mass spectroscopy. Other search option s Alphabetical list.

Eventually, vertebrae or other bones may fuse causing stiffening or immobility of affected joints ankylosis. Genetic counseling may be of benefit for affected individuals and their families. Refine your search, use eLS.

Evaluation of relatives at risk: In the Slovak population, evidence exists for mutational hot spots e. Calcification of the ear cartilage may be observed on radiographs.

It requires oxygen, ferrous iron, and sulfhydryl groups. University of Washington, Seattle ; Independently, Pollak et al. Normally, these enter the bloodstream through protein-containing food and the natural turnover of protein in the body. Physical and occupational therapy are important to promote optimal muscle strength and flexibility. Tendon-related findings, including a thickened Achilles tendon, tendonitis, and rupture, have also been observed clinically [ Phornphutkul et al ] and are demonstrable by MRI.


No phenotypes other than those discussed in this GeneReview are associated with pathogenic variants in HGD. Infobox medical condition new Genwtics articles with unsourced statements Articles with unsourced statements from May Affected individuals eventually develop ochronosis, which is the bluish-black discoloration of connective and other tissue within the body.

Affected mice showed high levels of urinary homogentisic acid without signs of ochronosis or qlkaptonuria. They pointed out that Garnica et al. MedGen Related information in MedGen.

Journal of Chronic Diseases 7: Aside from dark urine that is present from infancy, affected individuals generally do not develop symptoms asymptomatic during infancy or childhood and often remain unaware of their condition until adulthood.

In some cases, chronic and painful kidney or prostate stones may require surgical intervention or preventive prophylactic therapy. New Alkaptonruia Journal of Medicine Alkaptonuria is caused by mutation of the homogentisate 1,2-dioxygenase HGD gene. It has been hypothesized that high-dose ascorbic acid may prevent the deposition of ochronotic pigment, although it does not alter the basic metabolic defect [ Wolff et al ].

Biochemical testing alkapronuria the presence of elevated urinary homogentisic acid HGA. The inability to break down HGA leads to its accumulation.