Affiliation:
1. Department of Clinical Chemistry, University and Regional Laboratories Region Skåne, Sweden; and
2. Division of Endocrinology, Department of Pediatrics, University Hospital Lund, Sweden
Abstract
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.
Publisher
American Academy of Pediatrics (AAP)
Subject
Pediatrics, Perinatology and Child Health
Reference5 articles.
1. A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.;Menkes;Pediatrics,1954
2. Brain amino acid requirements and toxicity: the example of leucine [published correction appears in J Nutr. 2005;135(8):2009].;Yudkoff;J Nutr,2005
3. Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.;Fisher;Am J Hum Genet,1993
4. Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.;Brodtkorb;Mol Genet Metab,2010
5. Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.;Puckett;Mol Genet Metab,2010
Cited by
17 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献