eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases
Maple Syrup Urine Disease: Follow-up
Updated: Jul 7, 2008
Follow-up
Further Outpatient Care
- Follow up with patient at regular intervals (ie, at least once every 6-12 mo) with a biochemical geneticist familiar with the management of maple syrup urine disease (MSUD).
Deterrence/Prevention
- Patients should avoid consuming branched-chain amino acids (ie, natural protein) in excess of their daily allowance.
Complications
- Patients with MSUD are at risk for metabolic decompensation during periods of increased catabolism. Dietary compliance is necessary to prevent developmental delay and neurological symptoms.
Patient Education
- Educate patients and their caregivers about the principles of dietary treatment, calculation of leucine requirement, and intake and initial management of acute episodes. Supply a written emergency regimen and emergency card.
Miscellaneous
Medicolegal Pitfalls
- Failure to provide adequate dietary branched-chain amino acids, natural protein, or both
- Failure to restrict branched-chain amino acids
More on Maple Syrup Urine Disease |
| Overview: Maple Syrup Urine Disease |
| Differential Diagnoses & Workup: Maple Syrup Urine Disease |
| Treatment & Medication: Maple Syrup Urine Disease |
Follow-up: Maple Syrup Urine Disease |
| References |
| « Previous Page |
References
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Chuang DT. Maple syrup urine disease: it has come a long way. J Pediatr. Mar 1998;132(3 Pt 2):S17-23. [Medline].
Dancis J, Levits M, Westall RG. Maple syrup urine disease: branched-chain keto-aciduria. Pediatrics. Jan 1960;25:72-9. [Medline].
Snyderman SE, Norton PM, Roitman E, Holt LE Jr. Maple syrup urine disease, with particular reference to dietotherapy. Pediatrics. Oct 1964;34:454-72. [Medline].
Scriver CR, Mackenzie S, Clow CL, Delvin E. Thiamine-responsive maple-syrup-urine disease. Lancet. Feb 13 1971;1(7694):310-2. [Medline].
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Chuang DT, Shih VE. Maple syrup urine disease. In: Scriver CR, Beaudet AL, Valle DL, Sly WS, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill Co; 2000.
Fernstrom JD. Branched-chain amino acids and brain function. J Nutr. Jun 2005;135(6 Suppl):1539S-46S. [Medline].
Hallam P, Lilburn M, Lee PJ. A new protein substitute for adolescents and adults with maple syrup urine disease (MSUD). J Inherit Metab Dis. 2005;28(5):665-72. [Medline].
Harris RA, Joshi M, Jeoung NH, Obayashi M. Overview of the molecular and biochemical basis of branched-chain amino acid catabolism. J Nutr. Jun 2005;135(6 Suppl):1527S-30S. [Medline].
Heldt K, Schwahn B, Marquardt I, et al. Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification. Mol Genet Metab. Apr 2005;84(4):313-6. [Medline].
Henneke M, Flaschker N, Helbling C, et al. Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease. Hum Mutat. Nov 2003;22(5):417. [Medline].
Hoffmann B, Helbling C, Schadewaldt P, Wendel U. Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD. Pediatr Res. Jan 2006;59(1):17-20. [Medline].
Hoffmann GF, von Kries R, Klose D, et al. Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany. Eur J Pediatr. Feb 2004;163(2):76-80. [Medline].
Mitsubuchi H, Owada M, Endo F. Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake in healthy people: an implication from clinical and molecular investigations on maple syrup urine disease. J Nutr. Jun 2005;135(6 Suppl):1565S-70S. [Medline].
Morton DH, Strauss KA, Robinson DL, et al. Diagnosis and treatment of maple syrup disease: a study of 36 patients. Pediatrics. Jun 2002;109(6):999-1008. [Medline].
Righini A, Ramenghi LA, Parini R, et al. Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: evidence of intramyelinic and vasogenic-interstitial edema. J Neuroimaging. Apr 2003;13(2):162-5. [Medline].
Yudkoff M, Daikhin Y, Nissim I, et al. Brain amino acid requirements and toxicity: the example of leucine. J Nutr. Jun 2005;135(6 Suppl):1531S-8S. [Medline].
Further Reading
Keywords
maple syrup urine disease, MSUD, maple sugar urine disease, branched-chain ketonuria, branched chain ketonuria, branched-chain ketoaciduria, branched chain ketoaciduria, muscular hypotonia, muscular hypertonia, dystonia, seizures, encephalopathy, pseudotumor cerebri, pancreatitis, ketosis, otitis media, thiamine-responsive MSUD, ketotic hypoglycemia
Follow-up: Maple Syrup Urine Disease