Nutritional deficiency dermatitis related to branched-chain amino acid restriction in a child with maple syrup urine disease.

08:00 EDT 15th September 2019 | BioPortfolio

Summary of "Nutritional deficiency dermatitis related to branched-chain amino acid restriction in a child with maple syrup urine disease."

We present a one-year-old girl with maple syrup urine disease with dermatitis secondary to the restriction of amino acids as part of the treatment. We present the clinical evolution and histopathological correlation.


Journal Details

This article was published in the following journal.

Name: Dermatology online journal
ISSN: 1087-2108


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Medical and Biotech [MESH] Definitions

An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC

Amino acids which have a branched carbon chain.

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A 20-carbon branched chain fatty acid. In phytanic acid storage disease (REFSUM DISEASE) this lipid may comprise as much as 30% of the total fatty acids of the plasma. This is due to a phytanic acid alpha-hydroxylase deficiency.

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