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Analysis of institutional authors

Pascual Pascual, Samuel IgnacioAuthorUgarte Perez, MagdalenaAuthorPascual Castroviejo, IgnacioAuthorCastro, MAuthor

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Working Papers

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency

Publicated to:Journal Of Inherited Metabolic Disease. 22 (7): 802-810 - 1999-01-01 22(7), DOI: 10.1023/A:1005553907216

Authors: Pascual Castroviejo, Ignacio; Ugarte Perez, Magdalena; Pascual Pascual, Samuel Ignacio; Merinero, B; Pascual, Sip; Pascual Pascual, S I; Perez-Cerda, C; Gangoiti, J; Castro, M; Garcia, MJ; Garcia, M J; Castroviejo, IP; Vianey-Saban, C; Andresen, B; Gregersen, N

Affiliations

‎ Hop Debrousse, Unite Etude Malad Metab, Lyon, France - Author
‎ Hosp Infantil La Paz, Serv Neurol Pediat, Madrid, Spain - Author
‎ Skejby Sygehus, Res Unit Mol Med, DK-8200 Aarhus, Denmark - Author
‎ Univ Autonoma Madrid, Fac Ciencias,CBMSO, Dept Biol Mol, Ctr Diagnost Enfermedades, E-28049 Madrid, Spain - Author

Abstract

Two sisters were investigated at the ages of 20 and 13 years owing to persistently increased serum creatine kinase and recurrent episodes of rhabdomyolysis after emotional stress in the older and myalgias in the younger. The finding of increased levels of cis-5-tetradecenoic acid (C14:1) in plasma, severe hypocarnitinaemia and the absence of a pathological dicarboxylic aciduria in both sisters suggested a very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Reduced [1-(14)C]palmitate oxidation and deficient mitochondrial VLCAD activity in fibroblasts were found. Mutation analysis revealed compound heterozygosity for Asp365His and Arg410His changes. This late-onset, milder clinical presentation differs from the other two more severe infantile phenotypes described, since there is no hypoglycaemia or cardiac disease. Fatty acid oxidation defects should be investigated in all cases with rhabdomyolysis beginning in adolescence or early adulthood.

Keywords

AdolescentAdultBloodComplicationsCytologyDna mutational analysisFemaleFibroblastsFollow-up studiesHumans

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Journal Of Inherited Metabolic Disease due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 1999, it was in position , thus managing to position itself as a Q2 (Segundo Cuartil), in the category Genetics (Clinical). Notably, the journal is positioned en el Cuartil Q3 for the agency WoS (JCR) in the category Endocrinology & Metabolism.

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2025-06-29:

  • WoS: 24
  • Scopus: 27
  • Europe PMC: 14

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-29:

  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 18 (PlumX).

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Denmark; France; Netherlands.