Nutrition Management of Maple Syrup Urine Disease

Sandy van Calcar

doi:10.1007/978-3-030-94510-7_17

Nutrition Management of Maple Syrup Urine Disease

Sandy van Calcar

Molecular and Medical Genetics

Research output: Chapter in Book/Report/Conference proceeding › Chapter

1 Scopus citations

Abstract

Maple Syrup Urine Disease (MSUD) is caused by a deficiency in the branched-chain ketoacid dehydrogenase enzyme complex that metabolizes the ketoacids of leucine, isoleucine and valine. Infants with classical MSUD can present with intoxication syndrome and require aggressive nutrition support to prevent or reverse catabolism. Nutrition management includes use of medical foods devoid of branched-chain amino acids, dietary leucine restriction, supplemental valine and isoleucine, and provision of adequate energy, protein, vitamins and minerals. The goal of therapy is to maintain plasma leucine concentrations of 100-200 µmol/L for infants and children <5 years and 100-300 µmol/L for those over 5 years of age.

Original language	English (US)
Title of host publication	Nutrition Management of Inherited Metabolic Diseases
Subtitle of host publication	Lessons from Metabolic University: Second Edition
Publisher	Springer International Publishing
Pages	241-254
Number of pages	14
ISBN (Electronic)	9783030945107
ISBN (Print)	9783030945091
DOIs	https://doi.org/10.1007/978-3-030-94510-7_17
State	Published - Jan 1 2022

ASJC Scopus subject areas

General Medicine
General Engineering

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10.1007/978-3-030-94510-7_17

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abstract = "Maple Syrup Urine Disease (MSUD) is caused by a deficiency in the branched-chain ketoacid dehydrogenase enzyme complex that metabolizes the ketoacids of leucine, isoleucine and valine. Infants with classical MSUD can present with intoxication syndrome and require aggressive nutrition support to prevent or reverse catabolism. Nutrition management includes use of medical foods devoid of branched-chain amino acids, dietary leucine restriction, supplemental valine and isoleucine, and provision of adequate energy, protein, vitamins and minerals. The goal of therapy is to maintain plasma leucine concentrations of 100-200 µmol/L for infants and children <5 years and 100-300 µmol/L for those over 5 years of age.",

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AB - Maple Syrup Urine Disease (MSUD) is caused by a deficiency in the branched-chain ketoacid dehydrogenase enzyme complex that metabolizes the ketoacids of leucine, isoleucine and valine. Infants with classical MSUD can present with intoxication syndrome and require aggressive nutrition support to prevent or reverse catabolism. Nutrition management includes use of medical foods devoid of branched-chain amino acids, dietary leucine restriction, supplemental valine and isoleucine, and provision of adequate energy, protein, vitamins and minerals. The goal of therapy is to maintain plasma leucine concentrations of 100-200 µmol/L for infants and children <5 years and 100-300 µmol/L for those over 5 years of age.

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Nutrition Management of Maple Syrup Urine Disease

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