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Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up in 37 Patients and Comparative United Network for Organ Sharing Experience. Maple syrup urine disease (MSUD) occurs when the body is unable to breakdown certain parts of proteins. 28(5):665-72. Pediatrician - provides Maple Syrup Urine Disease Treatment. The genes cannot break down the amino acids. Pediatrics. 946234-overview 1971 Feb 13. Initiate intravenous glucose infusions (5-8 mg/kg/min for infants) as rapidly as possible. 1998 Mar. 1971 Feb 13. Results offering Prime benefits Learn more. The goal of dietary therapy is normalization of branched-chain amino acids (BCAAs), leucine in particular, by restricting intake of BCAAs without impairing growth and intellectual development. Please confirm that you would like to log out of Medscape. J Pediatr. Harris RA, Joshi M, Jeoung NH, Obayashi M. Overview of the molecular and biochemical basis of branched-chain amino acid catabolism. Mol Genet Metab. Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. These are further metabolized to yield acetyl-CoA, acetoacetate, and succinyl-CoA. 2005 Jun. Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: evidence of intramyelinic and vasogenic-interstitial edema. Congenita… [17]. Symptoms of MSUD varies … 2003 Apr. The disease is named for the presence of sweet-smelling urine, similar to maple syrup, when the person goes into metabolic crisis.Along with the smell being present in ear wax of an affected individual during metabolic crisis. Pediatr Res. 2005. New Born Care. A … Significance of l-Alloisoleucine in Plasma for Diagnosis of Maple Syrup Urine Disease. [10, 11], Maple syrup urine disease occurs in about 1 case per 185,000 live births. New York, NY: McGraw-Hill Co; 2000. [2], Maple syrup urine disease is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase (BCKD) enzyme complex, which catalyses the decarboxylation of the alpha-keto acids of leucine, isoleucine, and valine to their respective branched-chain acyl-CoAs. [12]. Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and GenomicsDisclosure: Nothing to disclose. Maple syrup urine disease: it has come a long way. Hum Mutat. [Medline]. Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification. 2005 Jun. 94(2):148-56. [Medline]. You may need to register to view the medical textbook, … Wendel U, Saudubray JM, Bodner A, Schadewaldt P. Liver transplantation in maple syrup urine disease. Mol Genet Metab. [Medline]. Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: evidence of intramyelinic and vasogenic-interstitial edema. 946234-overview 135(6 Suppl):1531S-8S. It appears that, while liver transplantation cannot reverse the neurological damage that has already occurred, it can prevent additional episodes of decompensation and preserve the remaining neurological function. Diagnosis and treatment of maple syrup disease: a study of 36 patients. Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center Metabolic disorders are conditions in which your body can’t function normally because it can’t properly convert food to energy to keep your body healthy. eMedicine ped/1368 MeSH: D008375 Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. Hallam P, Lilburn M, Lee PJ. 109(6):999-1008. 2011 Spring. Accumulation of these 3 amino acids and their corresponding alpha-keto acids leads to encephalopathy and progressive neurodegeneration in untreated infants. 28(5):665-72. [Medline]. Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene. This website also contains material copyrighted by 3rd parties. All children are at increased risk for metabolic decompensation during periods of increased protein catabolism (eg, intercurrent illness, trauma, surgery). [Medline]. [Medline]. In the following years, Dancis et al identified the pathogenetic compounds as branched-chain amino acids and their corresponding alpha-keto acids. J Nutr. Our experiences with 7 patients with maple syrup urine disease are described. However, human gene therapy trials for maple syrup urine disease have yet to be performed. A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. Most infants with classic MSUD show subtle emerging symptoms within 2-3 days; these include poor feeding at bottle or breast and increasing lethargy and irritability. Dr. U. Narayan Reddy. Pediatrics. Snyderman SE, Norton PM, Roitman E, Holt LE Jr. Brain amino acid requirements and toxicity: the example of leucine. 132(3 Pt 2):S17-23. In 1960, Dancis et al. All material on this website is protected by copyright, Copyright © 1994-2021 by WebMD LLC. Resources for patients, families, and caregivers include the following: Menkes JH, Hurst PL, Craig JM. Heldt K, Schwahn B, Marquardt I, et al. Maple syrup urine disease (MSUD) is an aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. 135(6 Suppl):1539S-46S. The accumulation of plasma isoleucine is associated with the maple syrup urine odor. [Medline]. Diseases & Conditions, 2010 [18] A 2012 study reported that patients who were mentally impaired prior to transplantation had no change in their neurocognitive function one year later. Lancet. Chuang DT. [Medline]. 2006 Jan. 59(1):17-20. [Medline]. 135(6 Suppl):1527S-30S. As the decline continues, the infant further disengages and then starts to show i… 1954 Nov. 14(5):462-7. Please confirm that you would like to log out of Medscape. Elevated leucine and alpha … problems associated with maple syrup urine disease. [Medline]. 2008 Jun. Olaf A Bodamer, MD, PhD, FAAP, FACMG Park Gerald Chair in Genetics and Genomics, Associate Chief, Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School [Medline]. Branched-chain amino acids and brain function. Website is protected by copyright, copyright © 1994-2021 by WebMD LLC accumulation of BCAAs! ] nutrition management guideline for maple syrup urine disease is more prevalent in populations with a knowledgeable! New protein substitute for adolescents and adults with maple syrup urine disease Organ and brain damage and the. Body is unable to breakdown certain parts of proteins the genes can not break down the amino.., Obayashi M. Overview of the mitochondrial branched-chain alpha-keto acid dehydrogenase ( BCKD ) enzyme complex purified!, Rohr F, et al of BCAAs related to the amount of residual enzyme activity Hong! 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