期刊
APPLICATION OF CLINICAL GENETICS
卷 10, 期 -, 页码 57-66出版社
DOVE MEDICAL PRESS LTD
DOI: 10.2147/TACG.S125962
关键词
maple syrup urine disease; BCKDHA; BCKDHB; DBT; newborn screening; alloisoleucine; branched-chain amino acids
资金
- Mayo Clinic Center for Individualized Medicine
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain a-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, alpha-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.
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