Alkaptonuria (AKU) and Its Treatment

Alkaptonuria (AKU), also known as Black Bone Disease, is an extremely rare genetic condition, that can cause significant damage to the bones, cartilage, and tissues of those affected. AKU typically only affects 1 in every 250,000 individuals worldwide. AKU is a recessive complication that is caused by a mutation of 1 chromosome, this means that in case 2 individuals carry the faulty gene, their child still only has a 25% probability of developing AKU.

AKU stops patients’ bodies from breaking down a chemical known as homogentisic acid (HGA) which the body naturally develops during the digestion of food. Because of this, HGA accumulates in the body and, over time, leads to black and brittle bones and cartilage, and early onset osteoarthritis. The accumulation of HGA in the body can also cause other, occasionally more serious health complications.

Symptoms of Alkaptonuria (AKU):

  • Black Urine: The initial symptom most patients with AKU will experience is black or dark urine. 
  • Osteoarthritis: Every AKU patient will experience joint pain at some juncture in their lives.
  • Black Spots in Eyes: AKU patients start to develop black spots in the whites of their eyes as they get older.
  • Discoloration of Ears: The ears of most AKU patients will eventually begin to develop a blue-black color
  • Heart Complications: The build-up of HGA caused by AKU can cause the vessels and valves of the heart
  • Other Symptoms: Alkaptonuria (AKU) can also affect several other areas of the body.

Treatment/Management of Alkaptonuria (AKU):

Alkaptonuria (AKU) can be treated using the medicine nitisinone. The main focus of the treatment is to decrease the deposition of homogentisic acid (HGA). Many studies have suggested that the therapeutic drug nitisinone effectively halts the build of homogentisic acid (HGA) by 99%. Nitisinone is now available to patients across the world. Patients from all over the world can access nitisinone treatment from THE INDIAN PHARMA (TIP).

The disease Alkaptonuria (AKU) can also be treated through ascorbic acid, a low-protein diet, and several self-management techniques including exercise and pain management.

Ascorbic acid(Vit-C): Ascorbic acid, which is known as vitamin C can be used due to the effect of reducing the conversion of homogentisic acid to benzoquinone acetic acid by oxidation. However, it does not affect the urinary excretion of homogentisic acid.

Low Protein Diet: A low protein diet can reduce tyrosine load and reduce the severity of the disease, but compliance with dietary needs is not easy. Efficacy is not proven.