Alkaptonuria is a lifelong condition, but there are many ways to help manage your symptoms. Alkaptonuria is a rare inherited disorder. It occurs when your body can’t produce enough of an enzyme called ...

The alkaptonuria therapeutics market, while niche, is witnessing increased attention due to growing awareness and advancements in potential treatments for this rare genetic disorder. This report ...

Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective ...

Disease name: Alkaptonuria, also known as "black urine disease" Affected populations: The exact prevalence of alkaptonuria worldwide is unknown. However, estimates suggest that the disease affects ...

Alkaptonuria, also known as “black urine disease”, is a rare inherited disease that was first described by Sir Archibald Edward Garrod in 1902, along with three other diseases, which are all caused by ...

Alkaptonuria is a rare, autosomal recessive metabolic disorder arising from the deficiency of the enzyme homogentisate 1,2-dioxygenase, which disrupts the normal degradation of tyrosine. This ...

Alkaptonuria is caused by the deficiency of a single enzyme called homogentisate 1,2 dioxygenase. This is responsible for the degradation of homogentisic acid (HGA) to maleylacetoacetic acid via the ...

Nitisinone reduced HGA levels and improved symptoms in patients with alkaptonuria. The Food and Drug Administration (FDA) has approved Harliku ™ (nitisinone) for the reduction of urine homogentisic ...

“The black discoloration of urine is often the earliest and most noticeable sign of the disease, typically appearing in infancy or early childhood. However, many individuals with alkaptonuria may not ...

This picture of a patient who had alkaptonuria (Fig. 1) was taken by my father, Dr. Ian Maxwell, in 1957 and was developed using the patient's own urine. Alkaptonuria ...