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Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency

1995; Springer Science+Business Media; Volume: 18; Issue: 2 Linguagem: Inglês

10.1007/bf00711777

1573-2665

P. Briones, Barbara Garavaglia, Antònia Ribes, M E Yoldi, M. Rodés, Carlos Romero, F. García‐Bragado,

Mitochondrial Function and Pathology

Journal of Inherited Metabolic DiseaseVolume 18, Issue 2 p. 237-240 Short Communication Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency P. Briones, P. Briones Instituto de Bioquímica Clínica, CSIC, Barcelona, SpainSearch for more papers by this authorB. Garavaglia, B. Garavaglia Instituto de Bioquímica Clínica, Milan, ItalySearch for more papers by this authorA. Ribes, A. Ribes Instituto de Bioquímica Clínica, Corporaciò Sanitaria, Barcelona, SpainSearch for more papers by this authorM. E. Yoldi, M. E. Yoldi Hospital Virgen del Camino, Pamplona, SpainSearch for more papers by this authorM. Rodés, M. Rodés Instituto de Bioquímica Clínica, Corporaciò Sanitaria, Barcelona, SpainSearch for more papers by this authorC. Romero, C. Romero Hospital Virgen del Camino, Pamplona, SpainSearch for more papers by this authorF. García-Bragado, F. García-Bragado Hospital Virgen del Camino, Pamplona, SpainSearch for more papers by this author P. Briones, P. Briones Instituto de Bioquímica Clínica, CSIC, Barcelona, SpainSearch for more papers by this authorB. Garavaglia, B. Garavaglia Instituto de Bioquímica Clínica, Milan, ItalySearch for more papers by this authorA. Ribes, A. Ribes Instituto de Bioquímica Clínica, Corporaciò Sanitaria, Barcelona, SpainSearch for more papers by this authorM. E. Yoldi, M. E. Yoldi Hospital Virgen del Camino, Pamplona, SpainSearch for more papers by this authorM. Rodés, M. Rodés Instituto de Bioquímica Clínica, Corporaciò Sanitaria, Barcelona, SpainSearch for more papers by this authorC. Romero, C. Romero Hospital Virgen del Camino, Pamplona, SpainSearch for more papers by this authorF. García-Bragado, F. García-Bragado Hospital Virgen del Camino, Pamplona, SpainSearch for more papers by this author First published: 01 March 1995 https://doi.org/10.1007/BF00711777Citations: 9 Instituto de Bioquímica Clínica, Carretera Flor de Maig s/n, Apartado de Correos 137, Cerdanyola, Barcelona, 08290, Spain AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 1Barth PG, Scholte HR, Berden JA et al (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes. J Neurol Sci, 62: 327– 355. 2Di Donato S, Garavaglia B, Strisciuglio P, Borrone C, Andria G (1988) Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides. Neurology, 38: 1107– 1110. 3Erikson BO, Gustafson B, Lindstedt S, Nordin I (1989) Transport of carnitine into cells in hereditary carnitine deficiency. J Inher Metab Dis, 12: 108– 111. 4Garavaglia B, Uziel G, Dworzak F, Carrara F, DiDonato S (1991) Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation. Neurology, 41: 1691– 1693. 5Ribes A, Riudor E, Briones P, Christensen E, Campistol J, Millington DS (1992) Significance of bound glutarate in the diagnosis of glutaric aciduria type I. J Inher Metab Dis, 15: 367– 370. 6Stanley CA, DeLeeuw SD, Coates PM et al (1991) Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol, 30: 709– 716. 7Stanley CA, Berry GT, Bennett MJ, Willi SM, Treem WR, Hale DE (1993) Renal handling of carnitine in secondary carnitine deficiency disorders. Pediatr Res, 34: 89– 97. 8Tein I, De Vivo DC, Bierman F et al (1990) Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res, 28: 247– 255. 9Treem WR, Stanley CA, Finegold DN, Hale DE, Coates PM (1988) Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med, 319: 1331– 1336. Citing Literature Volume18, Issue2March 1995Pages 237-240 ReferencesRelatedInformation