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Diagnosis of Alkaptonuria

Discover key insights into the diagnosis of alkaptonuria. Learn about screening tests, genetic testing, and clinical evaluations used for identification.

  • 05 Apr 2024
  • 2 min read
  • 83 views

Alkaptonuria is a rare inherited disorder known as black urine disease, wherein a person's urine turns dark brown or black when exposed to air. This condition is a fallout of the body's preventing the complete breakdown of two amino acids, tyrosine and phenylalanine, which are involved in building protein. The body cannot produce an enzyme called homogentisic dioxygenase acid (HGD). The bones and cartilage become discoloured and brittle, leading to the onset of another condition called osteoarthritis, especially in the spine and large joints. Hence, alkaptonuria can be defined as a rare genetic inborn error of protein metabolism. In the following section, let’s learn about the alkaptonuria diagnostic test.

What are the Diagnoses for Alkaptonuria?

The doctor may conduct tests to determine alkaptonuria if a patient shows symptoms such as the early onset of osteoarthritis, or their urine is turning black when exposed to air. The patient’s family history also comes into the picture. The tests include:

  • Gas chromatography - Mass spectroscopy (GC-MS) to look for elevated levels of homogentisic acid in a patient’s urine within a 24-hour period. The normal content per day should be 1-8 grams
  • Echocardiography to detect cardiac-related problems
  • Molecular genetic testing to identify any mutated HGD gene

For a better diagnosis of alkaptonuria, the doctor may want to know more about a patient’s family history, which is very useful in correctly diagnosing alkaptonuria. Most people do not know whether they carry the HGD gene or their parents were the inadvertent carriers.

Biochemical test: This is the gold standard method to check for alkaptonuria. A first-morning urine sample taken from the patient is mixed with ferric chloride. The doctor ascertains the condition as alkaptonuria if the mixture turns black.

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Conclusion

Alkaptonuria is a life-long condition that can be confusing and overwhelming for the patient. Early diagnosis, understanding of the condition’s progress, and focus on bone and mental health can help improve the quality of life for individuals affected by this rare disease. Patients are also prone to exhibit anxious and depressed behavior. Families of patients with alkaptonuria should maintain regular contact with their healthcare advisors for support, including understanding how their health insurance policy can assist them. Patients can also seek comprehensive support from the AKU group.

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