| pubmed-article:8736409 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8736409 | lifeskim:mentions | umls-concept:C0342786 | lld:lifeskim |
| pubmed-article:8736409 | lifeskim:mentions | umls-concept:C0205210 | lld:lifeskim |
| pubmed-article:8736409 | lifeskim:mentions | umls-concept:C2827424 | lld:lifeskim |
| pubmed-article:8736409 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:8736409 | pubmed:dateCreated | 1996-12-13 | lld:pubmed |
| pubmed-article:8736409 | pubmed:abstractText | Four patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency are presented. Clinical onset in the form of acute encephalopathy occurred between the ages of 9 months and 3 years. The clinical course included recurrent metabolic crises in 4 patients, cardiac involvement and retinopathy in 3, and myopathy in 2. None had signs of peripheral neuropathy. Three patients died and one is currently well. Hypoketotic hypoglycemia with C6-C14 3-hydroxy-dicarboxylic aciduria during metabolic crises associated with decreased plasma carnitine levels was the main biochemical finding. Enzymologic studies disclosed long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency in all patients. Homozygosity for a G to C mutation at position 1528 in the encoding region of the enzyme was found in 2 patients. Histologic and electron microscopic studies of liver biopsy specimens revealed steatosis in 3 patients and mitochondrial abnormalities in 2. Skeletal muscle biopsies disclosed nonspecific degenerative changes in 2 patients and were normal in the remaining 2. Ultrastructural abnormalities in mitochondria were found in 3 patients. A review of the literature combined with the data from our series (total 22 patients) disclosed acute clinical onset in 77% of cases and subacute in 23%. In the combined series, the average age at onset was 11 months, family history was positive in 32% of patients and overall mortality was 50%. We describe the clinical spectrum of this disease and emphasize that, among patients with suspected beta-oxidation defects the finding of pigmentary retinopathy should lead to the suspicion of long-chain 3-hydroxyacyl-coenzyme A-dehydrogenase deficiency. | lld:pubmed |
| pubmed-article:8736409 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8736409 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8736409 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8736409 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8736409 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8736409 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:8736409 | pubmed:issn | 0887-8994 | lld:pubmed |
| pubmed-article:8736409 | pubmed:author | pubmed-author:PonsRR | lld:pubmed |
| pubmed-article:8736409 | pubmed:author | pubmed-author:BrionesPP | lld:pubmed |
| pubmed-article:8736409 | pubmed:author | pubmed-author:NavarroCC | lld:pubmed |
| pubmed-article:8736409 | pubmed:author | pubmed-author:WandersR JRJ | lld:pubmed |
| pubmed-article:8736409 | pubmed:author | pubmed-author:RiudorEE | lld:pubmed |
| pubmed-article:8736409 | pubmed:author | pubmed-author:RibesAA | lld:pubmed |
| pubmed-article:8736409 | pubmed:author | pubmed-author:RoigMM | lld:pubmed |
| pubmed-article:8736409 | pubmed:author | pubmed-author:BaldellouAA | lld:pubmed |
| pubmed-article:8736409 | pubmed:author | pubmed-author:OlestiMM | lld:pubmed |
| pubmed-article:8736409 | pubmed:author | pubmed-author:Gil-GibernauJ... | lld:pubmed |
| pubmed-article:8736409 | pubmed:author | pubmed-author:OrtigosaLL | lld:pubmed |
| pubmed-article:8736409 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8736409 | pubmed:volume | 14 | lld:pubmed |
| pubmed-article:8736409 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8736409 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8736409 | pubmed:pagination | 236-43 | lld:pubmed |
| pubmed-article:8736409 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:8736409 | pubmed:meshHeading | pubmed-meshheading:8736409-... | lld:pubmed |
| pubmed-article:8736409 | pubmed:meshHeading | pubmed-meshheading:8736409-... | lld:pubmed |
| pubmed-article:8736409 | pubmed:meshHeading | pubmed-meshheading:8736409-... | lld:pubmed |
| pubmed-article:8736409 | pubmed:meshHeading | pubmed-meshheading:8736409-... | lld:pubmed |
| pubmed-article:8736409 | pubmed:meshHeading | pubmed-meshheading:8736409-... | lld:pubmed |
| pubmed-article:8736409 | pubmed:meshHeading | pubmed-meshheading:8736409-... | lld:pubmed |
| pubmed-article:8736409 | pubmed:meshHeading | pubmed-meshheading:8736409-... | lld:pubmed |
| pubmed-article:8736409 | pubmed:meshHeading | pubmed-meshheading:8736409-... | lld:pubmed |
| pubmed-article:8736409 | pubmed:meshHeading | pubmed-meshheading:8736409-... | lld:pubmed |
| pubmed-article:8736409 | pubmed:meshHeading | pubmed-meshheading:8736409-... | lld:pubmed |
| pubmed-article:8736409 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8736409 | pubmed:articleTitle | The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. | lld:pubmed |
| pubmed-article:8736409 | pubmed:affiliation | Child Neurology Unit, Vall d'Hebron University Hospital, Barcelona, Spain. | lld:pubmed |
| pubmed-article:8736409 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8736409 | pubmed:publicationType | Review | lld:pubmed |
| pubmed-article:8736409 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:8736409 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8736409 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8736409 | lld:pubmed |
