Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease
✍ Scribed by E. Simon; R. Fingerhut; J. Baumkötter; V. Konstantopoulou; R. Ratschmann; U. Wendel
- Book ID
- 106374091
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 269 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0141-8955
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📜 SIMILAR VOLUMES
Selenium (Se) status was studied in a patient with classical maple syrup urine disease (MSUD) receiving Se supplement. The basal plasma Se concentration was 0.06 pmol/l increasing to 2.1 pmol/1 after 40 days of supplementation. When the plasma Se distribution was analysed by gel filtration, a major
## 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‐