TY - JOUR
T1 - Maple syrup urine disease
T2 - Mechanisms and management
AU - Blackburn, Patrick R.
AU - Gass, Jennifer M.
AU - Pinto e Vairo, Filippo
AU - Farnham, Kristen M.
AU - Atwal, Herjot K.
AU - Macklin, Sarah
AU - Klee, Eric W.
AU - Atwal, Paldeep S.
N1 - Publisher Copyright:
© 2017 Blackburn et al.
PY - 2017/9/6
Y1 - 2017/9/6
N2 - 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 branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. Treatment consists of dietary restriction of BCAAs and close metabolic monitoring. Clinical outcomes are generally good in patients where treatment is initiated early. Newborn screening for MSUD is now commonplace in the United States and is included on the Recommended Uniform Screening Panel (RUSP). We review this disorder including its presentation, screening and clinical diagnosis, treatment, and other relevant aspects pertaining to the care of patients.
AB - 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 branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. Treatment consists of dietary restriction of BCAAs and close metabolic monitoring. Clinical outcomes are generally good in patients where treatment is initiated early. Newborn screening for MSUD is now commonplace in the United States and is included on the Recommended Uniform Screening Panel (RUSP). We review this disorder including its presentation, screening and clinical diagnosis, treatment, and other relevant aspects pertaining to the care of patients.
KW - Alloisoleucine
KW - BCKDHA
KW - BCKDHB
KW - Branched-chain amino acids
KW - DBT
KW - Maple syrup urine disease
KW - Newborn screening
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U2 - 10.2147/TACG.S125962
DO - 10.2147/TACG.S125962
M3 - Review article
AN - SCOPUS:85029582759
SN - 1178-704X
VL - 10
SP - 57
EP - 66
JO - Application of Clinical Genetics
JF - Application of Clinical Genetics
ER -