Branched-chain amino acid (BCAA) catabolism has been considered to have an emerging
role in the pathogenesis of metabolic disturbances in obesity and type 2 diabetes (T2D) …

Branched-chain amino acids (BCAAs) are important nutrient signals that have direct and
indirect effects. Frequently, BCAAs have been reported to mediate antiobesity effects …

Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the
branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the …

Over the past three decades, we studied 184 individuals with 174 different molecular
variants of branched-chain α-ketoacid dehydrogenase activity, and here delineate essential …

Each Association appointed at least one author to serve on the writing group. The Chair of
the writing group was appointed by the AASLD. Members of the writing group were not …

In an effort to increase harmonization of care and enable outcome studies, the Genetic
Metabolic Dietitians International (GMDI) and the Southeast Regional Newborn Screening …

Maple syrup urine disease (MSUD) is categorized as classic (severe), intermediate, or
intermittent. Neonates with classic MSUD are born asymptomatic but without treatment …

Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an
important group of conditions presenting with neurologic signs in newborns. They are …

OBJECTIVE: To assess clinical and neurocognitive function in children who have
undergone liver transplantation for classical maple syrup urine disease (MSUD). STUDY …

Branched-chain amino acid (BCAA) metabolism plays a central role in the pathophysiology
of both rare inborn errors of metabolism and the more common multifactorial diseases …