Familial alkaptonuria with neurological complications

ABSTRACT

A family of Alkaptonuric patients with autosomal dominant inheritance is recorded from the province of Azarbijan in IRAN. As yet undescribed, nerve deafness and autonomic neuropathy in this disorder is documented. Infantile hemiplegia with epileptic seizures n a juvenile member of this family in the absence of a detectable aetiology, might well be the result of this very metabolic dysfunction, which might have been in a benign form as intermittent phase in early childhood. Detailed survey of the case belonging to this disorder is suggested for detection of multiple enzyme defects in a single patient family