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rdf:type |
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|
lifeskim:mentions |
|
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pubmed:issue |
3
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pubmed:dateCreated |
1986-3-28
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|
pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
AIM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Mar
|
|
pubmed:issn |
0028-3878
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|
pubmed:author |
|
|
pubmed:issnType |
Print
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|
pubmed:volume |
36
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|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
367-72
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|
pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:3951704-Adolescent,
pubmed-meshheading:3951704-Carnitine,
pubmed-meshheading:3951704-Child,
pubmed-meshheading:3951704-Fatty Acids,
pubmed-meshheading:3951704-Female,
pubmed-meshheading:3951704-Fibroblasts,
pubmed-meshheading:3951704-Glutarates,
pubmed-meshheading:3951704-Humans,
pubmed-meshheading:3951704-Infant,
pubmed-meshheading:3951704-Lipid Metabolism,
pubmed-meshheading:3951704-Metabolic Diseases,
pubmed-meshheading:3951704-Mitochondria, Muscle,
pubmed-meshheading:3951704-Muscular Diseases,
pubmed-meshheading:3951704-Pedigree,
pubmed-meshheading:3951704-Riboflavin
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|
pubmed:year |
1986
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|
pubmed:articleTitle |
Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
