Abstract
Alkaptonuria is a rare metabolic disease characterised by accumulative deposition of homogentisic acid in the connective tissue of the body. This results in early degeneration of tendons, cartilages, heart valves, and other tissues. The main objective of the study is to examine the possibility of the nervous system involvement in patients with alkaptonuria The sample consists of two groups; 22 patients with AKU and 20 controls. A neurological assessment has been carried out including detailed medical history, neurological examination, and a nerve conduction study of the nerves of the dominant hand. The prevalence of any abnormality was compared between the two groups using chi square test. The mean values of the nerve conduction study were compared between the two groups using student t-test. There was a higher prevalence of low back pain, hearing problems and tinnitus, numbness and neuropathic pain in alkaptonuria patients. There was no significant difference between the two groups in other conditions such as seizures, headache, and syncope. The values of the nerve conduction study did not show significant difference between the two groups. Neurologically related symptoms in alkaptonuria mostly represent complications of the connective tissue degeneration rather than direct involvement of the nervous system. This has been supported further by the normal findings of the neurophysiology study in patients with alkaptonuria.
Highlights
Alkaptonuria is a rare metabolic disease characterised by accumulative deposition of ly homogentisic acid in the connective tissue of the body
A neurological assessu ment has been carried out including detailed l medical history, neurological examination, and ia a nerve conduction study of the nerves of the dominant hand
The mean values of the e nerve conduction study were compared m between the two groups using student t-test
Summary
Among AKU patients, a 36 year old male was complaining of progressive weakness for the. 9.346 8.781 8.755 14.104 m Neurological symptoms and signs m The most common symptom that has been o reported by 100% of AKU patients was low back c pain. Low back pain has been reported by 25%. Symptom of n numbness in any of the limbs was described by o 72% of patients and 15% of controls (P 0.005). N Neuropathic pain in either the upper or lower
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