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Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria
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EDITOR
Alkaptonuria (AKU) is a disorder of the
catabolism of aromatic amino acids. A defect of homogentisate 1,2 dioxygenase (HGO) leads to an accumulation of homogentisic acid (HGA)
and subsequently to deposition of polymerised HGA, a brown-black
pigment, in connective tissue, primarily in cartilage.1 2
This phenomenon is known as ochronosis. It results in debilitating
arthropathy which typically becomes manifest in the fourth decade of
life. Large amounts of HGA are excreted in the urine and cause its
black discolouration upon oxidation. In 1891, homogentisic acid was first isolated by Wolkow and Baumann3 from the urine of an AKU patient from a remote area of the Black Forest in south western Germany. In 1902, Garrod, aware of this biochemical finding, observed the autosomal recessive mode of inheritance of AKU and thereby showed
for the first time that mendelian laws also apply to human genetics.4 Garrod postulated that AKU results from an
enzyme deficiency
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This article has been cited by other articles:
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Rodriguez, J. M., Timm, D. E., Titus, G. P., Beltran-Valero de Bernabe, D., Criado, O., Mueller, H. A., Rodriguez de Cordoba, S., Penalva, M.A.
(2000). Structural and functional analysis of mutations in alkaptonuria. Hum Mol Genet
9: 2341-2350
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