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Page 1
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G. Plantone D, et al. Clin Drug Investig. 2021 Jun;41(6):513-527. doi: 10.1007/s40261-021-01038-1. Epub 2021 Apr 22. Clin Drug Investig. 2021. PMID: 33886098 Review.
Remarkably, some mitochondrial diseases respond to supplementation with riboflavin. These include multiple acyl-CoA-dehydrogenase deficiency (which is caused by ETFDH gene mutations in the majority of the cases, or mutations in the ETFA and ETFB …
Remarkably, some mitochondrial diseases respond to supplementation with riboflavin. These include multiple acyl-CoA- …
Investigation of adult-onset multiple acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.
Huang K, Duan HQ, Li QX, Luo YB, Yang H. Huang K, et al. Neuropathology. 2020 Dec;40(6):531-539. doi: 10.1111/neup.12667. Epub 2020 Jun 30. Neuropathology. 2020. PMID: 32608139
Multiple Acyl-CoA dehydrogenase deficiency (MADD), one of the most common lipid storage myopathies (LSMs), is a heterogeneous inherited muscular disorder that is pathologically characterized by numerous lipid droplets in muscle fibers due to lip …
Multiple Acyl-CoA dehydrogenase deficiency (MADD), one of the most common lipid storage myopathies (LSMs) …
Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency.
Zhang J, Han J, Wang Y, Wu Y, Ma L, Song X, Ji G. Zhang J, et al. Balkan Med J. 2022 Jul 22;39(4):290-296. doi: 10.4274/balkanmedj.galenos.2022.2022-1-127. Epub 2022 Jun 23. Balkan Med J. 2022. PMID: 35734957 Free PMC article.
AIMS: To evaluate the clinical, pathological, and genetic features of patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD). ...RESULTS: The most common clinical features in all patients were symm …
AIMS: To evaluate the clinical, pathological, and genetic features of patients with riboflavin-responsive multiple acyl …
Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation.
Rao NN, Burns K, Manolikos C, Hodge S. Rao NN, et al. BMJ Case Rep. 2023 May 22;16(5):e252668. doi: 10.1136/bcr-2022-252668. BMJ Case Rep. 2023. PMID: 37217231
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism that results in impairment of mitochondrial beta-oxidation of fatty acids. It is inherited in an autosomal recessive manner and impairs electron transfer in t …
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism that results in im …
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Muru K, Reinson K, Künnapas K, Lilleväli H, Nochi Z, Mosegaard S, Pajusalu S, Olsen RKJ, Õunap K. Muru K, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e915. doi: 10.1002/mgg3.915. Epub 2019 Aug 8. Mol Genet Genomic Med. 2019. PMID: 31392824 Free PMC article.
BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is a mitochondrial fatty acid oxidation disorder caused by variants in ETFA, ETFB, and ETFDH. ...Ultimately, a variant in the FAD synthase ge …
BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, i …
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.
Yıldız Y, Talim B, Haliloglu G, Topaloglu H, Akçören Z, Dursun A, Sivri HS, Coşkun T, Tokatlı A. Yıldız Y, et al. Pediatr Neurol. 2019 Oct;99:69-75. doi: 10.1016/j.pediatrneurol.2019.06.015. Epub 2019 Jun 28. Pediatr Neurol. 2019. PMID: 31331668
BACKGROUND: Multiple acyl-CoA dehydrogenase (MADD) deficiency, which is a rare metabolic disorder involving electron transport flavoproteins, has a wide array of clinical phenotypes. In this article, we describe 25 patients with MADD deficiency and present the clinical …
BACKGROUND: Multiple acyl-CoA dehydrogenase (MADD) deficiency, which is a rare metabolic disorder involving electron transport flavoproteins …
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
Goh LL, Lee Y, Tan ES, Lim JSC, Lim CW, Dalan R. Goh LL, et al. BMC Med Genomics. 2018 Apr 3;11(1):37. doi: 10.1186/s12920-018-0356-8. BMC Med Genomics. 2018. PMID: 29615056 Free PMC article.
BACKGROUND: Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is known to occur secon …
BACKGROUND: Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenot …
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Van Hove JLK, Vaz FM, Havinga R, Allersma DP, Zijp TR, Bedoyan JK, Heiner-Fokkema MR, Reijngoud DJ, Geraghty MT, Wanders RJA, Oosterveer MH, Derks TGJ. van Rijt WJ, et al. J Inherit Metab Dis. 2021 Jul;44(4):926-938. doi: 10.1002/jimd.12365. Epub 2021 Feb 15. J Inherit Metab Dis. 2021. PMID: 33543789 Free PMC article.
D,L-3-hydroxybutyrate (D,L-3-HB, a ketone body) treatment has been described in several inborn errors of metabolism, including multiple acyl-CoA dehydrogenase deficiency (MADD; glutaric aciduria type II). ...
D,L-3-hydroxybutyrate (D,L-3-HB, a ketone body) treatment has been described in several inborn errors of metabolism, including multiple …
Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency.
Lin PY, Liang WC, Liao WA, Sun YT. Lin PY, et al. BMC Neurol. 2021 Feb 27;21(1):93. doi: 10.1186/s12883-021-02121-y. BMC Neurol. 2021. PMID: 33639866 Free PMC article.
BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a treatable lipid metabolism disorder that presents as myopathy and episodic metabolic crisis. ...
BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a treatable lipid metabolism disorder th …
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Cotelli MS, Vielmi V, Rimoldi M, Rizzetto M, Castellotti B, Bertasi V, Todeschini A, Gregorelli V, Baronchelli C, Gellera C, Padovani A, Filosto M. Cotelli MS, et al. Neurol Sci. 2012 Dec;33(6):1383-7. doi: 10.1007/s10072-011-0900-1. Epub 2011 Dec 22. Neurol Sci. 2012. PMID: 22190129
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessively inherited disorder of fatty acid metabolism due to ETFA, ETFB or ETFDH mutations. ...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessively inherited disorder of f …
43 results