Alcaptonurie
The alcaptonurie is a disease caused by a deficit in homogentisic oxydase, a Enzyme implied in the Métabolisme of the Tyrosine. This deficit leads to an accumulation of Homogentisic acid responsible for the three demonstrations characteristic of the maladie :
- dark Coloring of the urines left with the room temperature (also called: disease of the black urine)
- unusual Pigmentation of the skin (of brown gray with black): Ochronose
- Arthritis of the spinal column and the large articulations by deposit of homogentisic acid.
Description
This disease does not decrease the life expectancy and neither backwardness nor delay of development causes.The clinical demonstrations are sometimes very discrete and vary in the same family.
The coloring of the urines appears only at the end of several hours and sometimes can even miss.
The coloring of the skin does not appear before 30 years.
The articular problems are most serious: low lumbar pains more important at the men than among women. These pains are at the beginning lumbar then cervical. The articulations of the hip, the knees and the shoulders are frequently reached, requiring the prosthetic replacement in half of the cases.
Diagnosis
Private clinic
Biological
The urinary proportioning of the homogentisic acid makes the diagnosis by showing a urinary excretion several grams per 12 midnight (between 1 and 8 grams) whereas that Ci is normally of a few milligrams.Genetics
The research of the change is not necessary to the diagnosis. This research is carried out only for the medical research.Sources
- Site in French of information on the orphan rare diseases and drugs
- Enzymopathie: Alcaptonurie
- Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 203500 * GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005
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