## Abstract __M__aple Syrup __U__rine disease (USUD) is an autosomal recessive inherited metabolic disorder of branched‐chain amino acid (L‐valin, L‐leucine, and L‐isoleucine metabolism named after the characteristic smell of affected patients urine. MSUD is caused by a deficiency of the branched‐c
✦ LIBER ✦
Maple syrup urine disease: Rapid prenatal diagnosis by enzyme assay
✍ Scribed by Wendel, U. ;R�diger, H. W. ;Passarge, E. ;Mikkelsen, Margareta
- Publisher
- Springer-Verlag
- Year
- 1973
- Weight
- 95 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0018-7348
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## Abstract Individuals with maple syrup urine disease (MSUD) have an inherited metabolic disorder resulting in a deficiency in the branched‐chain keto‐acid dehydrogenase complex. As a result, these individuals have elevated concentrations of the branched‐chain amino acids valine, isoluecine, allo‐