The types of presentations of MSUD include the classic (most severe and most common form at risk for major metabolic crisis in newborn and later periods), intermediate (elevations in metabolites with little or no risk for metabolic crisis), and intermittent (asymptomatic but at risk for metabolic crises during acute illness, usually infection).Ĭatabolic stress such as normal perinatal catabolism or an acute illness (e.g.

As a consequence, the ketoacids and their precursor BCAA accumulate in blood with the toxic metabolic components being leucine and the ketoacids. These ketoacids form from the breakdown of the branched chain amino acids (BCAA): leucine, isoleucine, and valine. Maple Syrup Urine Disease (MSUD) is an autosomal recessive organic acid/amino acid disorder due to a defect in the Branched Chain Ketoacid Dehydrogenase (BCKD) enzyme, which catalyzes the breakdown of branched chain ketoacids. Jonathan Picker, Fragile X Program Director, and were most recently updated in 2020. Harvey Levy, Senior Physician in Medicine/Genetics and Dr. These materials were developed at Boston Children’s Hospital under the direction of Dr. The acute illness materials are meant as a guideline for healthcare professionals treating the sick infant or child who is known to have maple syrup urine disease (MSUD). Please read our Terms of Use.Ĭlick here to download a PDF of the MSUD Acute Illness Materials. It is essential to call or page the on-call genetics/metabolism fellow, or failing this, the on-call metabolic attending at your hospital or nearest pediatric tertiary care center, as rapidly as possible. This protocol is only a guideline and should NOT be used for definitive treatment without metabolic consultation. Metabolic crises in infants and children with organic acid disorders are complex medical emergencies and must be treated as such to avoid death or serious brain injury.

Maple syrup urine disease screening