Newborn screening for maple syrup urine disease
In maple syrup urine disease
(MSUD; McKusik 248600), the degradation of the essential branched-chain L-amino acids leucine, valine, and isoleucine and their derived 2-oxoacids is impaired because of an inherited deficiency in branched-chain 2-oxoacid dehydrogenase complex (EC 1.
For example, in a recessive genetic disease known as Maple Syrup Urine Disease
(MSUD), enzymes used to break down certain amino acids are either absent or inactive.
Soon after Guthrie (1) expanded newborn screening by adding galactosemia, maple syrup urine disease
(MSUD), and homocystinuria to the original screening for phenylketonuria (PKU), he realized that screening would be more efficient and comprehensive if a single assay could be used to detect several disorders rather than the system of a separate bacterial assay for each disorder that he had developed.
As a result of this targeted partnership, MCADD was added to Georgia's series of Newborn Screenings because Georgia law (OCGA 31-12-6 & 31-12-7) and Rules and Regulations (Chapter 290-5-24) now require that every live born infant have an adequate blood test for nine treatable metabolic disorders (Phenylketonuria, Congenital Hypothyroidism, Maple Syrup Urine Disease
, Galactosemia, Tyrosinemia, Homocystinuria, Congenital Adrenal Hyperplasia, Biotinidase Deficiency, Medium-Chain Acyl-CoA Dehydrogenase Deficiency) and for Sickle Cell disorders.