HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Rare, autosomal recessively inherited enzyme defect with missing or reduced activity of homogentisic acid oxidase and consequently deposition of homogentisic acid in connective tissue and cartilage and excretion in urine.
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Occurrence/EpidemiologyThis section has been translated automatically.
Worldwide (accumulation in certain regions, e.g. the Czech Republic and Slovakia). Prevalence (Germany): 1-9/1 000 000 inhabitants.
EtiopathogenesisThis section has been translated automatically.
Autosomal recessive mutations of the HGD gene (homogentisate 1,2-dioxygenase gene; gene locus: 3q21-q23). >70 different mutations have been described.
The cause of the tissue damage is the accumulation of the oxidation product "benzoquinone-acetic acid", which can transform into a black polymer with high affinity to the connective tissue. This polymer induces a series of redox reactions with the formation of free radicals, which additionally damage the connective tissue. The deposition of the polymer can trigger inflammatory reactions that lead to calcification in the affected joints.
ManifestationThis section has been translated automatically.
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DiagnosisThis section has been translated automatically.
Initially light-coloured urine turns brown after prolonged standing (oxidation of the homogentisic acid); brown colouring of the urine accelerated by the addition of alkali Homogentisic acid is excreted in the urine and is detected by gas chromatography-mass spectroscopy.
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LiteratureThis section has been translated automatically.
- Boedeker CW (1859) On Alcapton; a new contribution to the question: which substances of urine can cause copper reduction? Zschr Council Med 7: 130-145
- Farzannia A et al (2003) Alkaptonuria and lumbar disc herniation. Report of three cases. J Neurosurg 98: 87-89
- Garrod AE (1902) The incidence of alkaptonuria. A study in chemical individuality. Lancet ii: 1616-1620
- Garrod AE (1908) The Croonian lectures on metabolism-inborn errors of metabolism. Lecture 1. lancet ii: 1-7
- Garrod AE (1908) The Croonian lectures on metabolism-inborn errors of metabolism. 2nd Lancet lecture ii: 73-79
- Phornphutkul C et al (2002) Natural history of alkaptonuria. N Engl J Med 347: 2111-2111
- Virchow R (1866) A case of general ochronosis of cartilage and cartilage-like parts. Arch Catholic Anat 37: 212
- Wolff JA, Barshop B, Nyhan WL et al (1989) Effects of ascorbic acid in alkaptonuria: Alterations in bezoquinone acetic acid and an ontogenic effect in infancy. Pediatric Res 26: 140-144
- Zatkova A et al (2003) Rapid detection methods for five HGO gene mutations causing alkaptonuria. Clin Genet 63: 145-149
Incoming links (5)Alcaptonuric osteoarthrosis deformans; Alkaptonuria, symptomatic; Alkaptonuric ochronosis; Ochronosis; Ochronosis, alkaptonuric;
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