Physiotherapeutic intervention in child with leucinosis: case report

Abstract

The leucinosis, also know as maple syrup urine disease, is a inherited metabolic disease that occurs from a genetic alteration causing a enzymatic error in branched-chain amino acids degradation like leucine, isoleucine and valine, characterized by tissue accumulation of these amino acids and their corresponding ketoacids, causing a neuropsycomotor
development involution and tonus alteration in the affected children. It is a rare disease (1/216000 born) not being common in physiotherapeutic
clinic. The clinical characteristics of the studied case were according to the found literature data. The treatment was based on the disease's scientific knowledge and on the actual physiotherapeutic techniques. Thus, the physiotherapist can assist the treatment of the patient with leucinosis, acting on the motor sequel, stimulating the development and avoiding the orthopedics and pulmonary complications insertion.