Diagnosis and treatment of maple syrup disease: a study of 36 patients
DH Morton, KA Strauss, DL Robinson… - …, 2002 - publications.aap.org
Objective. To evaluate an approach to the diagnosis and treatment of maple syrup disease
(MSD). Methods. Family histories and molecular testing for the Y393N mutation of the E1α
subunit of the branched-chain α-ketoacid dehydrogenase allow us to identify infants who
were at high risk for MSD. Amino acid concentrations were measured in blood specimens
from these at-risk infants between 12 and 24 hours of age. An additional 18 infants with MSD
were diagnosed between 4 and 16 days of age because of metabolic illness. A treatment …
(MSD). Methods. Family histories and molecular testing for the Y393N mutation of the E1α
subunit of the branched-chain α-ketoacid dehydrogenase allow us to identify infants who
were at high risk for MSD. Amino acid concentrations were measured in blood specimens
from these at-risk infants between 12 and 24 hours of age. An additional 18 infants with MSD
were diagnosed between 4 and 16 days of age because of metabolic illness. A treatment …