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 ...

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 ...

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 ...

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 ...

Alkaptonuria is an unusual disorder caused by a defect in protein metabolism. When you purchase through links on our site, we may earn an affiliate commission. Here’s how it works. Symptoms: One of ...

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 ...

“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 ...

While alkaptonuria itself isn't directly life-threatening, if left unmanaged, it can lead to serious complications like debilitating arthritis, which may affect quality of life. To know more about the ...

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 ...

When you buy through links on our articles, Future and its syndication partners may earn a commission. Symptoms: One of the earliest signs that someone has alkaptonuria is dark stains in their diapers ...

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 ...