Endocrine Abstracts

Leucinosis also called Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in urine with an evolution to encephalopathy and central respiratory failure if untreated. When diagnosed at birth, treatment is based on nutrition therapy aiming at rapidly reducing of toxic metabolites through dietary restriction, shifting towards and preventing or min...