Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset

M. de Visser; H. R. Scholte; R. B. Schutgens; P. A. Bolhuis; I. E. Luyt-Houwen; M. H. Vaandrager-Verduin; H. A. Veder; P. L. Oey

doi:https://doi.org/10.1212/WNL.36.3.367

Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset

M. de Visser, H. R. Scholte, R. B. Schutgens, P. A. Bolhuis, I. E. Luyt-Houwen, M. H. Vaandrager-Verduin, H. A. Veder, P. L. Oey

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Abstract

A 17-year-old girl with progressive lipid-storage myopathy for 2 years had low muscle carnitine levels. There was no therapeutic response to prednisone and DL-carnitine-HCl. Chemical findings indicated glutaric aciduria type II. Riboflavin therapy and a fat-restricted, carbohydrate-enriched diet resulted in dramatic improvement. Low carnitine concentrations in plasma and muscle were observed in three asymptomatic sisters who had normal urinary excretion patterns. There was impaired mitochondrial beta-oxidation in cultured skin fibroblasts from the index patient and all three siblings

Original language	English
Pages (from-to)	367-372
Journal	Neurology
Volume	36
Issue number	3
DOIs	https://doi.org/10.1212/WNL.36.3.367
Publication status	Published - 1986

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https://doi.org/10.1212/WNL.36.3.367

Cite this

@article{8ecd4dfdbf51402e9193321857c302af,

title = "Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset",

abstract = "A 17-year-old girl with progressive lipid-storage myopathy for 2 years had low muscle carnitine levels. There was no therapeutic response to prednisone and DL-carnitine-HCl. Chemical findings indicated glutaric aciduria type II. Riboflavin therapy and a fat-restricted, carbohydrate-enriched diet resulted in dramatic improvement. Low carnitine concentrations in plasma and muscle were observed in three asymptomatic sisters who had normal urinary excretion patterns. There was impaired mitochondrial beta-oxidation in cultured skin fibroblasts from the index patient and all three siblings",

author = "{de Visser}, M. and Scholte, {H. R.} and Schutgens, {R. B.} and Bolhuis, {P. A.} and Luyt-Houwen, {I. E.} and Vaandrager-Verduin, {M. H.} and Veder, {H. A.} and Oey, {P. L.}",

year = "1986",

doi = "https://doi.org/10.1212/WNL.36.3.367",

language = "English",

volume = "36",

pages = "367--372",

journal = "Neurology",

issn = "0028-3878",

publisher = "American Academy of Neurology",

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TY - JOUR

T1 - Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset

AU - de Visser, M.

AU - Scholte, H. R.

AU - Schutgens, R. B.

AU - Bolhuis, P. A.

AU - Luyt-Houwen, I. E.

AU - Vaandrager-Verduin, M. H.

AU - Veder, H. A.

AU - Oey, P. L.

PY - 1986

Y1 - 1986

N2 - A 17-year-old girl with progressive lipid-storage myopathy for 2 years had low muscle carnitine levels. There was no therapeutic response to prednisone and DL-carnitine-HCl. Chemical findings indicated glutaric aciduria type II. Riboflavin therapy and a fat-restricted, carbohydrate-enriched diet resulted in dramatic improvement. Low carnitine concentrations in plasma and muscle were observed in three asymptomatic sisters who had normal urinary excretion patterns. There was impaired mitochondrial beta-oxidation in cultured skin fibroblasts from the index patient and all three siblings

AB - A 17-year-old girl with progressive lipid-storage myopathy for 2 years had low muscle carnitine levels. There was no therapeutic response to prednisone and DL-carnitine-HCl. Chemical findings indicated glutaric aciduria type II. Riboflavin therapy and a fat-restricted, carbohydrate-enriched diet resulted in dramatic improvement. Low carnitine concentrations in plasma and muscle were observed in three asymptomatic sisters who had normal urinary excretion patterns. There was impaired mitochondrial beta-oxidation in cultured skin fibroblasts from the index patient and all three siblings

U2 - https://doi.org/10.1212/WNL.36.3.367

DO - https://doi.org/10.1212/WNL.36.3.367

M3 - Article

C2 - 3951704

SN - 0028-3878

VL - 36

SP - 367

EP - 372

JO - Neurology

JF - Neurology

IS - 3

ER -