In medical terms, AKU refers to Alkaptonuria, a rare inherited metabolic disorder.
Understanding Alkaptonuria (AKU)
Alkaptonuria (AKU) is a condition caused by a defect in the body's ability to process the amino acids tyrosine and phenylalanine. This defect leads to a buildup of a substance called homogentisic acid (HGA) in the body.
Key Aspects of AKU:
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Genetic Origin: Alkaptonuria is an autosomal recessive condition, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder.
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Homogentisic Acid Accumulation: The primary characteristic of AKU is the accumulation of homogentisic acid in various body tissues.
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Clinical Manifestations: This accumulation results in several long-term complications:
- Ochronosis: Darkening of cartilage and other connective tissues due to HGA deposition.
- Arthritis: Joint pain and stiffness, often starting in the spine and large joints.
- Urine Discoloration: Urine turns dark brown or black upon exposure to air.
- Cardiovascular Complications: Possible heart valve problems due to HGA accumulation.
- Kidney Stones: increased risk of kidney stone development
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Neurological and Psychological Complications: AKU can also lead to neurological (nerve-related) and psychological (mental health) problems. Although the reference provides the information that neurological and psychological complications can occur, it does not give further detail on the specific manifestations.
Diagnosis and Management
- Diagnosis: Diagnosis typically involves urine tests to detect elevated levels of homogentisic acid. Genetic testing can confirm the diagnosis.
- Management: Current management strategies focus on symptom relief and slowing the progression of the disease:
- Nitisinone: This medication reduces the production of homogentisic acid.
- Dietary Restrictions: Limiting protein intake, particularly phenylalanine and tyrosine, may help reduce HGA levels.
- Pain Management: Analgesics and physical therapy can help manage joint pain.
- Joint Replacement: In severe cases of arthritis, joint replacement surgery may be necessary.
