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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Differential diagnosis Differential diagnosis includes acute intermittent porphyria, rheumatoid arthritis, ankylosing spondylitis see these terms and osteoarthritis.

Genes and Databases for chromosome locus and protein. Fractures of the vertebrae and long bones are also possible.

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DNA banking is the storage of DNA typically extracted from white blood cells for possible future use. The homogentisic acid is converted to the related substance benzoquinone acetic acid which forms polymers that resemble the skin pigment melanin.

Elevated urinary HGA and ochronotic arthritis occur in all gdnetics who are homozygous or compound heterozygous for pathogenic variants in HGD. Diagnosis Suggestive Findings Alkaptonuria should be suspected in individuals with any of the following major features: Testing for the presence of elevated urinary HGA in sibs of affected individuals allows for early diagnosis and intervention to prevent secondary complications.

The treatment of alkaptonuria is aimed at the specific symptoms that are present in each individual. Pigmented conjunctival lesions as initial manifestation of ochronosis. In general, the goal of joint replacement is pain relief rather than increased aalkaptonuria of motion. RareConnect offers a safe patient-hosted online community for patients and caregivers affected by this rare disease.



A thorough history combined genetisc lack of excessive HGA excretion in the urine should eliminate false positive diagnoses. For all other comments, please send your remarks via contact us.

Although most centers would consider decisions about prenatal testing to be the choice of the parents, discussion of these issues is appropriate.

Nitisinone inhibits the enzyme 4-hydroxyphenylpyruvate dioxygenaseresponsible for converting tyrosine to homogentisic acid, thereby blocking the production and accumulation of HGA. Long-term use requires frequent monitoring for complications. A deep purple or black discoloration may be seen on the skin of the hands, corresponding to the underlying tendons, or in the web between the thumb and index finger.

These are deposited in the collagena connective tissue protein, of particular tissues such as cartilage. Fifty percent of individuals require at least one joint replacement by age 55 years [ Phornphutkul et al ]. In some cases, the whites of the eyes sclera may also become discolored.

Ochronosis resulting from alkaptonuria may be confused with acquired, reversible pigmentary changes following prolonged use of carbolic acid dressings for chronic cutaneous ulcers genetlcs La Du alkaptonura. Nitisinone is approved for the treatment of tyrosinemia type I. Similar articles in PubMed. Plasma tyrosine levels in these patients rose, with no clinical signs or symptoms.

The purpose was to determine whether concentrations in body fluids of the latter substance, the putative toxic metabolite in alkaptonuria, would be reduced.

Carrier testing for at-risk relatives requires prior identification of the HGD pathogenic variants in the family. Synonyms of Alkaptonuria AKU alcaptonuria. Decreased binding of 14 C-homogentisic acid induced by ascorbic acid in connective tissues of rats with experimental alkaptonuria.

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.


Prostate stones may contribute to recurrent infection or urinary obstruction and require surgical removal.

Related Genetic Counseling Issues See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.

Detailed information Article for general public Svenska Genetic counseling may be of benefit for affected individuals and their families.

Alkaptonuria – GeneReviews® – NCBI Bookshelf

Other features may include genitourinary e. Older individuals may require removal and fusion of lumbar discs. In grey are indicated mutations that most likely originated in this country. Ocular albinism 1 Oculocutaneous albinism Hermansky—Pudlak syndrome Waardenburg syndrome. The cartilage alkaptonurix slate blue or gray and feels irregular or thickened.

Activities that place significant physical stress to the spine and joints such as high impact sports or heavy manual labor should be avoided.

However, since this change often takes several hours, it often goes unnoticed. For an introduction to comprehensive genomic testing click here. The mitral valve is located between the left upper and left lower chambers of the heart. In some individuals, heart disease may develop due to the accumulation of homogentisic acid within the aortic or mitral valves. Family members should be referred for genetic counseling.

These generally start in the fourth decade. Garrod AE The incidence of alkaptonuria: The exact incidence of alkaptonuria is unknown.