ICD10 code of Alkaptonuria and ICD9 code

Alkaptonuria is classified under the ICD-10 code E70.2 and the ICD-9 code 270.2. These billing and diagnostic codes are essential for healthcare providers and insurance systems to accurately track the clinical management of Alkaptonuria worldwide.

What is the clinical significance of Alkaptonuria?

Alkaptonuria is a rare, inherited metabolic disorder characterized by the body's inability to fully break down the amino acids tyrosine and phenylalanine. This leads to the accumulation of homogentisic acid in the body, which eventually deposits in connective tissues, causing cartilage to darken and become brittle. Living with Alkaptonuria often involves managing chronic joint pain, known as ochronotic arthropathy, and potential cardiovascular complications as patients age.

How is Alkaptonuria diagnosed and classified?

Diagnosis typically involves detecting high levels of homogentisic acid in the urine. Because Alkaptonuria is a multisystem disorder, clinicians use the ICD-10 E70.2 and ICD-9 270.2 codes to facilitate multidisciplinary care. While the disease is rare, our DiseaseMaps community currently supports 31 individuals with Alkaptonuria who share their journey of managing symptoms and navigating the healthcare system.

Is Alkaptonuria hereditary?

Yes, Alkaptonuria is an autosomal recessive genetic condition. This means an individual must inherit one mutated HGD gene from each parent to manifest the disease. Genetic counseling is highly recommended for families affected by Alkaptonuria to understand the 25% recurrence risk in subsequent pregnancies.

What are the primary features of Alkaptonuria?

• Darkening of the urine upon exposure to air (alkaptonuria).


• Ochronosis: blue-black pigmentation of connective tissues, particularly in the ears and sclera.


• Early-onset arthritis, frequently affecting the spine and large joints.


• Increased risk of heart valve disease and kidney stones.

Next steps

• Consult a metabolic specialist or a rheumatologist familiar with Alkaptonuria to develop a tailored management plan.


• Connect with the 31 members on DiseaseMaps.org to share experiences and coping strategies.


• Discuss genetic testing and family screening options with a certified genetic counselor.

Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• Orphanet: Alkaptonuria (ORPHA:68)


• NIH Genetic and Rare Diseases (GARD) Information Center: Alkaptonuria


• OMIM (Online Mendelian Inheritance in Man): Alkaptonuria (#203500)


• Alkaptonuria Society (AKU Society)