
Alkaptonuria. The urine in the glass B has been for 24 hours and has become dark. Alajoulin OA, 2015. Openi. CC BY NC SA 3.0
Contents
Definition
Alkaptonuria is a rare, hereditary disease that causes the amino acids phenyl-alanine and tyrosine not to degrade and accumulate in cartilage and heart valves.
Symptoms of Alkaptonuri
- Striking brown urine from childhood on
- Brown pigment patches on ear cartilage and eyes (on sclera)
- Symptom debut from 30 years of age
- Increasing pain
- Back
- Hips
- Knees
- Osteoarthritis (Ochronose)
- Late injuries (Achilles tendon rupture)
- Osteoporosis
- Cardiovascular disease (aortic and mitral valve)
- Stone formation
- Nephrolithiasis
- Gallstones
- Salivary gland stone
- "White intervertebral Discs" (calcified discs) on X-rays
- "Black Invertebrates" by DEXA scan (osteoporosis assessment)
Diagnosis
- Urine:
- The amount of homogenticic acid is determined by chromatography after urin collection over 24 hours
- Genetic testing
Treatment
- No healing treatment
- Unsafe effect, but high doses of ascorbic acid (vitamin C) and diet that reduces the intake of phenylalanine and tyrosine (guidance via nutritionist) are attempted.
Prognosis
- Pain and reduced quality of life
- Often need for joint prostheses
- Not shortened life span
References
This page has had 1 visits today