Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2004-3-17
pubmed:abstractText
We experienced a 24-year-old male patient with myalgia and myoglobuinuria followed by severe exercise from childhood. In 18 years old, he had severe myaglia after a long time-night trip by bus. He was diagnosed as acute renal failure induced by rhabdomyolysis and treated with hemodialysis. In 24 years old, he was admitted to our hospital because of repeated rhabdomyolysis. We performed muscle biopsy from right quadriceps femoris, however histological and immunohistochemistological studies were normal. Ischemic forearm exercise test showed the elevation of lactic acid in serum. Therefore, we performed the analysis of acylcarnitine in serum, and the measurement of enzyme in beta-oxidation in muscle and white blood cells. These showed the lack of very-long-chain-acyl coA dehydrogenase (VLCAD) activity. He was diagnosed as skeletal muscle type VLCAD deficiency. Under the guidance of high carbohydrate and low fat diet, creatine kinase was controlled around 400 IU/l. VLCAD deficiency is important to make a differential diagnosis of young cases with recurrent elevation of creatine kinase.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0006-8969
pubmed:author
pubmed:issnType
Print
pubmed:volume
56
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
64-8
pubmed:dateRevised
2007-2-22
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
[A case of skeletal muscle type very-long-chain-acyl CoA dehydrogenase(VLCAD) deficiency with repeated rhabdomyolysis].
pubmed:affiliation
Department of Neurology, Toranomon Hospital, 2-2-2 Toranomon, Minato-ku, Tokyo 105-8470, Japan.
pubmed:publicationType
Journal Article, English Abstract, Case Reports