Homocarnosinosis
Overview
A very rare metabolic disorder where a deficiency of homocarnosinase causes a harmful buildup of homcarnosine. Symptoms include mental retardation, retinal pigmentation and spastic diplegia.
Symptoms
* Progressive spastic diplegia * Retinal pigmentation * Mental retardation * Atrophy of brain cortex
Diagnosis
signs and symptoms of Homocarnosinosis may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Homocarnosinosis symptoms.