multiple acyl-CoA dehydrogenase deficiency
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
... Mutations of ETFDH cause the onset of Multiple acyl-CoA dehydrogenase deficiency (MADD). MADD, also known as Glutaric aciduria type II (MIM 231680), is a rare autosomal recessive ...
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Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations
... Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder caused by mutation of the electron transfer flavoprotein A (ETFA), electron transfer flavoprotein B ...
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Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report
... Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) showed great clinical heterogeneity and poses a challenge to ...flavoprotein dehydrogenase (ETFDH) gene were found ...
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Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report
... Case presentation: We report a patient presented with severe muscle weakness and exercise intolerance, suggestive of LSM. Diagnostic testing demonstrated lipid accumulation in muscle fibres and elevated plasma ...
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Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review
... Genetic screening was performed in the alpha ETF (ETFA), beta ETF (ETFB), and ETF dehydrogenase (ETFDH) genes. A common mutation C.770A>G (p.T257C) in Chinese population was identified in exon 7 of the ETFDH ...
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Prolonged exercise testing in two children with a mild Multiple Acyl-CoA-Dehydrogenase deficiency
... Urine samples were taken before and after (3 hours) the exercise test and analyzed for organic acid analysis. Blood samples were taken before and after exercise and analyzed for glucose, lactate, free fatty acids (FFA), ...
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Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
... “multiple acyl-CoA dehydrogenase deficiency”, “glutaric aciduria type 2”, “glutaric acidemia type 2”, “ETFDH”, “ETFA” and “ETFB” in order to obtain comprehensive information on the ...
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Spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening
... MCAD deficiency all had C8 elevations de- tected in the initial ...had multiple amino acid and/or acylcarnitine eleva- tions in addition to ...MCAD deficiency that had presented ...MCAD ...
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Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives
... which resulted in improved blood glucose level to 40 mg/dL. Subsequently, the infant was transferred to the closest neo- natal intensive care unit (NICU) in their geographical area. While being transported, he developed ...
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Complementation analysis of fatty acid oxidation disorders
... chain acyl-coenzyme A (CoA) dehydrogenase deficiency (115%), medium chain acyl-CoA dehydrogenase deficiency (18%), long-chain acyl-CoA ...
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The multiple acyl coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic adipic aciduria Mitochondrial fatty acid oxidation, acyl coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts
... The multiple acyl-coenzyme A (CoA) dehydrogenation disorders (MAD) include severe (S) and mild (M) variants, glutaric aciduria type II (MAD:S) and ethylmalonic-adipic aciduria ...mitochondria, ...
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Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada
... MCAD deficiency through newborn blood spot screening followed by appropriate manage- ment dramatically reduces the risks of acute metabolic cri- ses, early death, and long-term disability, although specific ...
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Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder
... SCAD deficiency is always a serious disorder may have been influenced by a clinical ...SCAD deficiency may be associated with maternal HELLP ...short-chain acyl- CoA dehydrogenase, ...
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Emerging role of lipid metabolism alterations in Cancer stem cells
... Although targeting the cell metabolism provides promising opportunities for eliminating CSCs, we have to face the dilemma of heterogeneity and metabolic plas- ticity of these cells [226–229]. CSCs and tumor cells may ...
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The endogenous molecular clock orchestrates the temporal separation of substrate metabolism in skeletal muscle
... lactate dehydrogenase B; Ndufa8: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8; LPA: lysophosphatidic acid; Lpin1: lipin 1; Mlxip: MLX interacting protein; Mlycd: malonyl-CoA decarboxylase; ...
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The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario
... Additional limitations to this analysis relate to the inability to ascertain whether all identified screen posi- tive individuals include all children with MCADD. While a provincial feed[r] ...
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Newborn Screening by Tandem Mass Spectrometry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Cost-Effectiveness Analysis
... Variables as- sessed included the MCADD prevalence (range: 1/10 000 –1/ 50 000); the proportion of MCADD patients that are asymptomatic (0%–90%), test sensitivity (0.95–1.0) and specific[r] ...
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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
... In conclusion, our study points to that the ACADM genotype most commonly seen in MCADD might be of particular relevance in refining a follow-up protocol, since plasma carnitine levels in patients homozygous for ...
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Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis
... Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and ...
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Hypoglycemia, Hypotonia, and Cardiomyopathy: The Evolving Clinical Picture of Long-Chain Acyl-CoA Dehydrogenase Deficiency
... viral illness.7’2’ This is reminiscent of patients with carnitine palmityl transferase deficiency, an en- zyme defect in the transport of long-chain fatty acid esters of carnitine into m[r] ...
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