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 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 ...

Q: Which doctor should I consult for alkaptonuria? A: If your child is suffering from alkaptonuria, consult a pediatrician. If the patient is an adult, consult a doctor trained in General Medicine. A: ...

“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 ...

BOSTON, July 17, 2025--(BUSINESS WIRE)--Cycle Pharmaceuticals announced the launch of HARLIKU, the first and only FDA-approved treatment for reducing urinary homogentisic acid (HGA) in adult patients ...

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, 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 ...

Symptoms: One of the earliest signs that someone has alkaptonuria is dark stains in their diapers as babies, because the homogentisic acid in their urine turns black upon exposure to air. Besides dark ...

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 ...

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 ...