Publication
Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene
| dc.contributor.author | Antunes, Antonio | |
| dc.contributor.author | Nogueira, Célia | |
| dc.contributor.author | Rocha, Hugo | |
| dc.contributor.author | Vilarinho, Laura | |
| dc.contributor.author | Evangelista, Teresinha | |
| dc.date.accessioned | 2014-03-17T14:37:02Z | |
| dc.date.available | 2014-03-17T14:37:02Z | |
| dc.date.issued | 2013-12 | |
| dc.description.abstract | Deficiency of very-long-chain acyl-CoA dehydrogenase (VLCAD) is an autosomal recessive disease. Most common phenotypes occur in the neonatal period or in childhood with cardiomyopathy, hepatomegaly, and hypoketogenic hypoglycemia. Juvenile/adult-onset is characterized by exercise intolerance and recurrent rhabdomyolysis triggered by prolonged exercise or fasting. This article reports a patient with the homozygous mutation c.1097G>A (p.R366H) in the ACADVL gene. In Portugal, VLCAD deficiency became part of the neonatal screening plan in 2004, and as of 2012, 8 early-onset cases have been diagnosed, giving an incidence rate of 1:97.238 per 737.902 newborns. This patient was diagnosed outside of the neonatal screening plan. Beta-oxidation defects pose a diagnostic challenge because of their transient clinical and laboratorial manifestations and the absence of morphological changes in muscle biopsy further complicate matters, especially in the late-onset forms of the disease. The adult phenotype of VLCAD deficiency is highlighted, emphasizing the need for a high suspicion index and the value of tandem mass spectrometry for the diagnosis | por |
| dc.identifier.citation | J Clin Neuromuscul Dis. 2013 Dec;15(2):69-72. doi: 10.1097/CND.0000000000000012 | por |
| dc.identifier.issn | 1522-0443 | |
| dc.identifier.other | doi: 10.1097/CND.0000000000000012 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/2151 | |
| dc.language.iso | eng | por |
| dc.publisher | Lippincott, Williams & Wilkins | por |
| dc.relation.publisherversion | http://journals.lww.com/jcnmd/pages/articleviewer.aspx?year=2013&issue=12000&article=00007&type=abstract | por |
| dc.subject | VLCAD | por |
| dc.subject | Doenças Genéticas | por |
| dc.title | Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 72 | por |
| oaire.citation.startPage | 69 | por |
| oaire.citation.volume | 15(2) | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | article | por |