Searchable abstracts of presentations at key conferences in endocrinology

ea0073aep648 | Thyroid | ECE2021

Case report : A rare case of leucinosis decompensated by hyperthyroidism

Yaker Fetta , Pauline Busiau , Anne-Flore Herrou , yawa Abouleka , Sandrine Gippa , Myriam Dao , Diane Evrard , Ronan Roussel , Louis Potier

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...