During that time Simon did not know anyone else with alkaptonuria
, so he searched the internet for information or fellow sufferers.
Now he receives dozens of em ails from patients with alkaptonuria
and doctors from around the world.
Yesterday he saw his vision become a reality when the Robert Gregory National Alkaptonuria
Centre was officially opened at the Royal.
The AKU Society aims to find an effective treatment and cure for alkaptonuria
. For more visit www.
DISCUSSION: In Early 1990s the study of genetic metabolic disorders began with the discovery of the first inborn errors of metabolism, alkaptonuria
, pentosuria, cystinuria, and albinism by Sir Archibald Garrod .
Lumbar disc herniation in a patient of alkaptonuria
: Case report and review of literature.
is caused by missense mutations in the HGD gene, which maps the human chromosome 3q21-q23, and the prevalence of the mutations is approximately 1:1 ,000 ,000-250, 000 in most ethnic groups (3).
Errors in amino acid metabolism conclude some correlations between biochemical and pathological conditions, for example, alkaptonuria
, an inherited metabolic disorder is caused by the absence of enzyme homogentisate oxidase due to which accumulation of homogentisate occurs and is excreted in urine, which turns dark black on standing due to oxidation.
All 5 adult cases referred with strong suspicion of alkaptonuria
, from medical OPD (n=1), orthopedic department (n=1) and dermatology departments (n=3) tested strongly positive for marked elevations of homogentisic acid.
The incidence of alkaptonuria
: a study in chemical individuality.
is a rare inborn error of metabolism caused by mutations in the gene responsible for the production of homogentisate 1,2-dioxygenase, an enzyme that plays an important role in the normal degradation of the aromatic amino acids tyrosine and phenylalanine.
This patient has alkaptonuria
, a rare disorder (approximately 1 in 250 000) caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase ([HGD.sup.3]; EC.188.8.131.52).