The presenting symptoms and clinical course of 2 cases of intermittent maple syrup urine disease (MSUD) are described. Intermittent MSUD is a potentially life-threatening metabolic disorder caused by a deficiency of branched-chain α-keto acid dehydrogenase, the enzyme complex that decarboxylates the 3 branched-chain amino acids. In contrast to classic MSUD, children with the intermittent form show normal development with normal intelligence and, when asymptomatic, normal levels of branched-chain amino acids. Symptoms usually appear between 5 months and 2 years of age, when a trivial infection such as otitis media or viral gastroenteritis triggers catabolism of muscle protein. Intermittent MSUD should be suspected in cases of common infections with a clinically atypical course, especially in children displaying ataxia or marked drowsiness.
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Article Synopsis
- The study investigates the relationship between branched-chain fatty acids (BCFAs) and branched-chain amino acids (BCAAs) in patients with maple syrup urine disease (MSUD), a condition affecting BCAA metabolism.
- MSUD patients follow a low protein diet to manage their condition, which may impact their BCFA levels, leading researchers to explore whether they have lower levels compared to healthy individuals.
- Findings showed that MSUD patients do not have significantly reduced plasma BCFA levels, suggesting that their bodies can maintain BCFA levels despite impaired synthesis, and thus do not necessarily require BCFA supplementation.
Newborn screening of maple syrup urine disease and the effect of early diagnosis.
Clin Chim Acta
August 2023
Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China. Electronic address:
Background: Maple syrup urine disease (MSUD) is a rare disease for which newborn screening (NBS) is feasible but not universally applied in China. We shared our experiences with MSUD NBS.
Methods: Tandem mass spectrometry-based NBS for MSUD was implemented in January 2003, and diagnostic methods included urine organic acid analysis via gas chromatography-mass spectrometry and genetic analysis.
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