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Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy.
Auranen, M; Paetau, A; Piirilä, P; Pohju, A; Salmi, T; Lamminen, A; Löfberg, M; Mosegaard, S; Olsen, R K; Tyni, T.
Afiliación
  • Auranen M; Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Finland. Electronic address: mari.auranen@hus.fi.
  • Paetau A; Department of Pathology, HUSLAB, University of Helsinki and Helsinki University Hospital, Finland.
  • Piirilä P; Unit of Clinical Physiology, HUS Medical Imaging Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
  • Pohju A; Clinical Nutrition Unit, Helsinki University Hospital, Finland.
  • Salmi T; Department of Clinical Neurophysiology, Medical Imaging Center, Helsinki University Hospital, Finland.
  • Lamminen A; Department of Radiology, Medical Imaging Center, Helsinki University Hospital, Finland.
  • Löfberg M; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Finland.
  • Mosegaard S; Research Unit for Molecular Medicine, Department of Clinical Medicine, Health, Aarhus University Hospital and Aarhus University, Denmark.
  • Olsen RK; Research Unit for Molecular Medicine, Department of Clinical Medicine, Health, Aarhus University Hospital and Aarhus University, Denmark.
  • Tyni T; Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland; Department of Pediatric Neurology, Hospital for Children and Adolescence, Helsinki University Central Hospital, Helsinki, Finland.
Neuromuscul Disord ; 27(6): 581-584, 2017 Jun.
Article en En | MEDLINE | ID: mdl-28433476
Multiple acyl-CoA dehydrogenation deficiency is genetically heterogenous metabolic disease with mutations in genes involved in electron transfer to the mitochondrial respiratory chain. Disease symptoms vary from severe neonatal form to late-onset presentation with metabolic acidosis, lethargy, vomiting, muscle pain and weakness. Riboflavin therapy has been shown to ameliorate diseases symptoms in some of these patients. Recently, mutations in FAD synthase have been described to cause multiple acyl-CoA dehydrogenation deficiency. We describe here the effect of riboflavin supplementation therapy in a previously reported adult patient with multiple acyl-CoA dehydrogenation deficiency having compound heterozygous gene variations in FLAD1 (MIM: 610595) encoding FAD synthase. We present thorough clinical history including laboratory investigations, muscle MRI, muscle biopsy and spiroergometric analyses comprising of a follow-up of 20 years. Our data suggest that patients with adult-onset multiple acyl-CoA dehydrogenation deficiency with FLAD1 gene mutations also benefit from long-term riboflavin therapy.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Riboflavina / Mutación del Sistema de Lectura / Mutación Missense / Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa Límite: Adult / Female / Humans Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Riboflavina / Mutación del Sistema de Lectura / Mutación Missense / Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa Límite: Adult / Female / Humans Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article Pais de publicación: Reino Unido