Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder

Neurology. 2014 Jan 7;82(1):e1-4. doi: 10.1212/01.wnl.0000438217.31437.72.

Authors

Gaetano Terrone¹, Margherita Ruoppolo, Nicola Brunetti-Pierri, Carla Cozzolino, Emanuela Scolamiero, Giancarlo Parenti, Alfonso Romano, Generoso Andria, Francesco Salvatore, Giulia Frisso

Affiliation

¹ From the Departments of Pediatrics (G.T., N.B.-P., G.P., A.R., G.A.) and Molecular Medicine and Medical Biotechnologies (M.R., G.F.), University of Naples Federico II; CEINGE-Biotecnologie Avanzate s.c.ar.l. (M.R., C.C., E.S., F.S., G.F.); and IRCCS-Fondazione SDN (F.S.), Naples, Italy.

PMID: 24379101
DOI: 10.1212/01.wnl.0000438217.31437.72

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

3-Hydroxyacyl CoA Dehydrogenases / deficiency
3-Hydroxyacyl CoA Dehydrogenases / genetics
3-Hydroxyacyl CoA Dehydrogenases / metabolism
Cardiomyopathies / diagnosis
Cardiomyopathies / genetics
Cardiomyopathies / metabolism
Fatty Acids / metabolism*
Humans
Infant
Lipid Metabolism, Inborn Errors / diagnosis
Lipid Metabolism, Inborn Errors / genetics
Lipid Metabolism, Inborn Errors / metabolism
Male
Mitochondrial Myopathies / diagnosis
Mitochondrial Myopathies / genetics
Mitochondrial Myopathies / metabolism
Mitochondrial Trifunctional Protein / genetics*
Nervous System Diseases / diagnosis
Nervous System Diseases / genetics
Nervous System Diseases / metabolism
Neurology
Recurrence
Rhabdomyolysis / diagnosis*
Rhabdomyolysis / genetics*
Rhabdomyolysis / metabolism

Substances

Fatty Acids
3-Hydroxyacyl CoA Dehydrogenases
Mitochondrial Trifunctional Protein

Supplementary concepts

Trifunctional Protein Deficiency With Myopathy And Neuropathy