alkaptonuria การใช้

• A 1977 study showed that an ochronotic Egyptian mummy had probably suffered from alkaptonuria.
• The studies will recruit alkaptonuria patients in Europe.
• The tetrad comprises four inherited metabolic diseases : albinism, alkaptonuria, cystinuria, and pentosuria.
• Several recent studies have suggested that the herbicide nitisinone may be effective in the treatment of alkaptonuria.
• Clinical trials are ongoing to test whether nitisinone could prevent the ochronosis experienced by older alkaptonuria patients.
• He published " The Incidence of Alkaptonuria : a Study in Chemical Individuality " in 1902.
• If the trials are successful, DevelopAKUre will try to get nitisinone licensed for use by alkaptonuria patients.
• The condition is most often associated with alkaptonuria but can occur from exogenous administration of phenol complexes like hydroquinone.
• It is hoped that if the trials are successful, nitisinone could also be licensed for treatment of alkaptonuria.
• It has been demonstrated that treatment with nitisinone can reduce urinary levels of homogentisic acid in alkaptonuria patients by 95 %.
• His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and sialic acid diseases.
• A series of clinical trials run by DevelopAKUre to determine whether nitisinone is effective at treating the ochronosis suffered by patients with alkaptonuria are ongoing.
• Alkaptonuria is caused when an enzyme called homogentisic dioxygenase ( HGD ) is faulty so can't break down homogentisic acid ( HGA ).
• Alkaptonuria is a rare disease; it occurs in one in 250, 000 people, but is more common in Slovakia and the Dominican Republic.
• They are responsible for drug supply and regulatory support in the ongoing clinical trials that will test the efficiacy of nitisinone as a treatment for alkaptonuria.
• He is known for work that prefigured the " one gene-one enzyme " hypothesis, based on his studies on the nature and inheritance of alkaptonuria.
• Garrod expanded his metabolic studies to cover cystinuria, pentosuria, and albinism . These three inborn errors, along with alkaptonuria are collectively called Garrod's tetrad.
• HPPD can be linked to one of the oldest known inherited metabolic disorders known as alkaptonuria, which is caused by low levels of homogentisate in the blood stream.
• Research at the National Institutes of Health ( NIH ) has demonstrated that nitisinone can reduce urinary levels of HGA by up to 95 % in patients with alkaptonuria.
• Alkaptonuria is a rare familial disease of organic acid metabolism that is best known for the darkening of urine from yellow to brown to black after it is exposed to the air.