Letters to the editor
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene
| The first 150 words of the full text of this article appear below. |
EDITOR
Alkaptonuria (AKU, OMIM 203500) is a rare
disorder caused by the deficiency of homogentisate 1,2 dioxygenase
(HGO, EC 1.13.11.5).1 HGO catalyses the conversion of
homogentisate (HGA) to maleylacetoacetate in the phenylalanine/tyrosine
catabolic pathway.2 As a consequence, affected subjects
excrete HGA in their urine, which becomes dark upon exposure to air.
The medical interest in this condition stems from its association with
ochronosis, or the deposition of a brownish pigment in connective
tissues including cartilage, where its accumulation can produce a
debilitating degenerative joint disease.3
AKU occupies a unique place in the history of human genetics because it
was the first disorder to be described as a Mendelian recessive
trait.4-6 Recent advances in the understanding of the molecular basis of AKU7-9 have verified that loss of
function mutations in the HGO gene are
responsible for the disease. A few mutations have been repeatedly
detected in patients from different European countries.
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