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Multiple Acyl Coenzyme A Dehydrogenase Deficiency

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An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).

Also Known As:

ETFA Deficiency; ETFB Deficiency; ETFDH Deficiency; Electron Transfer Flavoprotein Alpha Subunit Deficiency; Electron Transfer Flavoprotein Beta Subunit Deficiency; Electron Transfer Flavoprotein Deficiency; Electron Transfer Flavoprotein Dehydrogenase Deficiency; Ethylmalonic-Adipic Aciduria; Ethylmalonic-Adipicaciduria; Glutaric Aciduria II; Glutaric Aciduria IIA; Glutaric Aciduria IIB; Glutaric Aciduria IIC; Glutaric Aciduria Type 2; Glutaric Aciduria Type II; MADD (Multiple Acyl-CoA Dehydrogenase Deficiency); Multiple Acyl-CoA Dehydrogenase Deficiency; Aciduria, Ethylmalonic-Adipic; Acidurias, Ethylmalonic-Adipic; ETFA Deficiencies; ETFB Deficiencies; ETFDH Deficiencies; Ethylmalonic Adipic Aciduria; Ethylmalonic Adipicaciduria; Ethylmalonic-Adipic Acidurias; MADD (Multiple Acyl CoA Dehydrogenase Deficiency); MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency); Multiple Acyl CoA Dehydrogenase Deficiency

Networked: 165 relevant articles (5 outcomes, 11 trials/studies)

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Disease Context: Research Results

Related Diseases

1.	Muscle Weakness
2.	Muscular Diseases (Myopathy)
3.	Ichthyosis (Xeroderma)
4.	Multiple Acyl Coenzyme A Dehydrogenase Deficiency
5.	Propionic Acidemia

Experts

1.	de Sain-van der Velden, M G M: 4 articles (01/2014 - 08/2007)
2.	Westermann, C M: 4 articles (01/2014 - 08/2007)
3.	van der Kolk, J H: 4 articles (01/2014 - 08/2007)
4.	Liang, Wen-Chen: 4 articles (02/2011 - 09/2004)
5.	Jong, Yuh-Jyh: 4 articles (01/2011 - 09/2004)
6.	Dorland, L: 4 articles (10/2010 - 10/2002)
7.	Angelini, Corrado: 3 articles (04/2015 - 03/2006)
8.	Wang, Yu: 3 articles (03/2015 - 12/2007)
9.	Ye, Jun: 3 articles (03/2015 - 12/2007)
10.	Vianey-Saban, Christine: 3 articles (03/2011 - 06/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Multiple Acyl Coenzyme A Dehydrogenase Deficiency:

1.	Riboflavin (Vitamin B2)FDA LinkGeneric 01/01/2015 - "A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene." 08/01/2014 - "To identify pathogenic mutation in a boy affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency (RR-MADD). " 08/01/2014 - "[Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency]." 12/01/2012 - "Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect." 11/01/2012 - "A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene."
2.	Carnitine (L-Carnitine)FDA LinkGeneric 10/01/2010 - "Free carnitine is measured to monitor carnitine supplementation in patients with multiple acyl-coenzyme A dehydrogenase deficiency (MADD) and carnitine transporter deficiency (CTD) and to follow metabolic control and disclose deficiency states in other FAO disorders. " 09/01/1999 - "Despite the poor prognosis of neonatal-onset multiple acyl-CoA-dehydrogenase-deficiency, treatment with carnitine, riboflavine, and a high-energy diet low in fat and high in carbonhydrates resulted in clinical stabilization. " 06/01/1999 - "Twelve years after the death, we retrospectively diagnosed multiple acyl-coenzyme A dehydrogenase deficiency by demonstrating an abnormal acyl-carnitine profile in the child's archived newborn screening card, using tandem mass spectrometry." 06/01/1999 - "Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card." 08/01/2015 - "The lipid storage myopathies, primary carnitine deficiency, neutral lipid storage disease, and multiple acyl coenzyme A dehydrogenase deficiency (MADD), are progressive disorders that cause permanent weakness. "
3.	Glycine (Aminoacetic Acid)FDA LinkGeneric 09/01/1991 - "A 9-y-old girl with ethylmalonic/adipic aciduria was hospitalized to determine the possible therapeutic efficacy of oral carnitine and glycine supplementation. " 10/01/2010 - "Assessment of organic acids, glycine conjugates, and acylcarnitines in urine was regarded as gold standard in the biochemical diagnosis of equine acquired multiple acyl-CoA dehydrogenase deficiency." 09/01/1991 - "Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines."
4.	AcidsIBA 03/01/2003 - "Metabolic studies and urine organic acids were suggestive of a multiple acyl-CoA dehydrogenase deficiency. " 08/01/2010 - "Our cases will illustrate the difficulty in making a biochemical diagnosis of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency from plasma acylcarnitines and urine organic acids in both symptomatic and asymptomatic children. " 12/01/1984 - "The excretion pattern of organic acids in the urine was consistent with glutaric aciduria type II (GA II). " 02/01/1999 - "Gas chromatographic analysis of urinary organic acids should be studied in any patient with agenesis of the cerebellar vermis and cystic renal disease to exclude glutaric aciduria type II." 03/01/1989 - "Abnormalities such as hypotonia, cerebral gliosis, heterotopias, hepatomegaly, hepatic periportal necrosis, polycystic kidneys, and genital defects in glutaric aciduria II are reminiscent of those in Zellweger syndrome, whereas elevations of glutaric, ethylmalonic, adipic, and isovaleric acids are quite distinctive. "
5.	EnzymesIBA 01/01/1995 - "Decreased activity of respiratory-chain enzymes in glutaric aciduria type II." 05/01/1989 - "These results suggest that in some patients with multiple acyl-CoA dehydrogenase deficiency riboflavin supplementation may be effective in restoring the activity of SCAD, and possibly of other mitochondrial flavin-dependent enzymes." 02/01/2008 - "Glutaric aciduria type II is a rare disorder affecting the metabolism of fatty acid oxidation and several mitochondrial dehydrogenase enzymes. " 03/01/2006 - "Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient." 05/01/2008 - "A deficiency of several mitochondrial dehydrogenases that utilize flavin adenine dinucleotide as cofactor including the acyl-CoA dehydrogenases of fatty acid beta-oxidation, and enzymes that degrade the CoA-esters of glutaric acid, isovaleric acid, 2-methylbutyric acid, isobutyric acid, and sarcosine was suspected in 10 out of 10 cases as the possible etiology for a highly fatal and prevalent toxic equine muscle disease similar to the combined metabolic derangements seen in human multiple acyl-CoA dehydrogenase deficiency also known as glutaric acidemia type II."
6.	Mitochondrial Proteins (Mitochondrial Protein)IBA 03/01/2006 - "In this case report we studied alterations in mitochondrial proteins in a patient suffering from recurrent profound muscle weakness, associated with ethylmalonic-adipic aciduria, who had benefited from high dose of riboflavin treatment. "
7.	Acyl Coenzyme A (Acyl CoA)IBA 01/01/2014 - "Multiple acyl-CoA dehydrogenation deficiency (MADD; also known as glutaric aciduria type II) is a human autosomal recessive disease classified as one of the mitochondrial fatty-acid oxidation disorders. " 09/01/1982 - "Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. " 09/01/1982 - "Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. " 07/01/1986 - "The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. " 01/01/1980 - "Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II."
8.	Electron-Transferring Flavoproteins (Electron Transfer Flavoprotein)IBA 11/01/2010 - "Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency." 01/01/1991 - "Newly identified forms of electron transfer flavoprotein (ETF) deficiency in two patients with glutaric aciduria type II (GA II) were described. " 01/01/1990 - "A new variant of glutaric aciduria type II: deficiency of beta-subunit of electron transfer flavoprotein." 12/01/1980 - "Glutaric aciduria type II: in vitro studies on substrate oxidation, acyl-CoA dehydrogenases, and electron-transferring flavoprotein in cultured skin fibroblasts." 01/01/2014 - "Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder caused by deficiency of electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase. "
9.	OxidoreductasesIBA 07/01/2012 - "Mutations in the electron tranferring fravoprotein genes (ETFA/ETFB) and its dehydrogenase (ETFDH) are causative for multiple acyl-CoA dehydrogenase deficiency. " 01/01/2014 - "Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder caused by deficiency of electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase. " 12/01/2010 - "Similar urinary and serum metabolite signatures are known to be the hallmarks of multiple acyl-coenzyme A dehydrogenase deficiency in humans, a genetic disorder because of defects in primary flavoprotein dehydrogenase reactions. " 01/01/2009 - "In humans, mutations in electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH) lead to MADD/glutaric aciduria type II, an autosomal recessively inherited disorder characterized by a broad spectrum of devastating neurological, systemic and metabolic symptoms. " 02/01/2008 - "Glutaric aciduria type II is a rare disorder affecting the metabolism of fatty acid oxidation and several mitochondrial dehydrogenase enzymes. "
10.	Medium chain acyl CoA dehydrogenase deficiencyIBA 08/06/1999 - "Using six stable isotope labeled internal standards, this method allows the biochemical diagnosis of glutaric aciduria type II and medium chain acyl-CoA dehydrogenase deficiency, and could contribute to the diagnosis of other FAO disorders when used in combination with other biochemical investigations on blood and urine. " 01/01/1989 - "There is as yet little general experience in prenatal diagnosis of this group of disorders except for glutaric aciduria type II. Single prenatal diagnoses of medium-chain acyl-CoA dehydrogenase deficiency and of an incompletely characterized defect of medium-chain fatty acid oxidation have been performed." 02/01/2012 - "Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II." 06/01/2001 - "The fatty acid composition was determined of liver, skeletal muscle and heart obtained post mortem from patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD), multiple acyl-CoA dehydrogenase deficiency (MADD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). " 08/01/1997 - "The in vivo oxidation of fatty acids (FA) of different chain length was investigated in three patients with documented mitochondrial FA oxidation disorders: one patient with mild multiple acyl-CoA dehydrogenase deficiency (MADM), one with medium chain acyl-CoA dehydrogenase deficiency (MCAD), and one with carnitine palmitoyltransferase I deficiency (CPT I). "

Therapies and Procedures

1.	Oral Administration 01/01/2014 - "Given the effects of oral administration of L-carnitine further clinical study is necessary in order to assess the potential beneficial effects in equine patients suffering from metabolic myopathies such as acquired multiple acyl-CoA dehydrogenase deficiency. "
2.	Intensive Care (Surgical Intensive Care) 10/01/2014 - "Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis in adulthood, intensive care management and sequelae." 03/01/2001 - "We describe a patient presenting to intensive care with a rare cause of metabolic acidosis associated with an increased anion gap: multiple acyl-CoA dehydrogenase deficiency. "
3.	Fat-Restricted Diet (Diet, Fat Restricted) 01/01/2015 - "Multiple acyl-CoA dehydrogenase deficiency- (MADD-), also called glutaric aciduria type 2, associated leukodystrophy may be severe and progressive despite conventional treatment with protein- and fat-restricted diet, carnitine, riboflavin, and coenzyme Q10. "
4.	Immunotherapy 09/01/2013 - "Pharmacological, immunotherapy, nutritional, and physical/rehabilitative treatments for late-onset Pompe disease and other metabolic myopathies are covered, including treatments for defects in glycogen metabolism, such as glycogenosis type V (McArdle disease), and glycogenosis type III (debrancher enzyme deficiency), and defects in lipid metabolism, such as carnitine palmitoyltransferase II deficiency and electron transferring flavoprotein dehydrogenase deficiency, or riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. "
5.	Aftercare (After-Treatment) 03/01/2012 - "evaluate the psychomotor evolution of a child with Multiple acyl-CoA dehydrogenase deficiency after treatment with L-carnitine, ubiquinone and riboflavin. "