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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: 106 relevant articles (5 outcomes, 7 trials/studies) for this Disease, Comments

Relationship Network

Disease Context: Research Results

Related Diseases

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

Experts

1.	Dorland, L: 3 articles (05/2008 - 10/2002)
2.	Wanders, Ronald J A: 2 articles (06/2009 - 12/2005)
3.	Liang, Wen-Chen: 2 articles (03/2009 - 09/2004)
4.	Jong, Yuh-Jyh: 2 articles (03/2009 - 09/2004)
5.	Hirano, Michio: 2 articles (03/2009 - 08/2007)
6.	Chen, Liang-Hui: 2 articles (03/2009 - 09/2004)
7.	Ye, Jun: 2 articles (08/2008 - 12/2007)
8.	Wang, Yu: 2 articles (08/2008 - 12/2007)
9.	Wijnberg, I D: 2 articles (05/2008 - 08/2007)
10.	Westermann, C M: 2 articles (05/2008 - 08/2007)

Drugs and Biologics

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

1.	Riboflavin (Vitamin B2)FDA Link 06/27/2009 - "Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency." 12/01/2003 - "Riboflavin in conjunction with appropriate diet control is an effective therapeutic regime for patients with late-onset glutaric aciduria type II." 03/01/2000 - "He was then diagnosed as having probable riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. " 11/01/1995 - "Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy." 09/01/1991 - "The effect of riboflavin supplementation on muscle performance and exercise metabolism was investigated in four patients with multiple acyl-coenzyme A dehydrogenase deficiency (MAD). " Order ALL the reference details at left...
2.	Carnitine (L-Carnitine)FDA LinkGeneric 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 - "Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card." 06/01/1987 - "Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency." 10/01/1998 - "Riboflavin and carnitine are effective in some cases of multiple acyl-CoA dehydrogenase deficiency and primary carnitine deficiency, respectively. " 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. " Order ALL the reference details at left...
3.	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 - "BACKGROUND: 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." Order ALL the reference details at left...
4.	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. " Order ALL the reference details at left...
5.	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. " 09/01/1991 - "Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines." Order ALL the reference details at left...
6.	CAV protocol (CHO)FDA Link 10/01/2006 - "An elevated Cho/Cr ratio and decreased NAA/Cr ratio is consistent with a demyelinating process in the active phase of glutaric aciduria type II. MRS helps to monitor the progress of the disease and the efficacy of treatment by revealing changes in NAA/Cr and Cho/Cr ratios." 10/01/2006 - "After successful riboflavin treatment and dietary restriction for proteins, the NAA/Cr ratio was within the normal range (2.44) and Cho/Cr ratio was below the normal range (1.15), suggesting riboflavin-responsive multiple acyl-coA dehydrogenase deficiency. " Order ALL the reference details at left...
7.	Acyl Coenzyme A (Acyl CoA)IBA 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." 05/17/1995 - "The abnormal urinary metabolite profiles were similar to that observed in the urine of humans with glutaric aciduria type II (an inborn error of metabolism) caused by a lack of mitochondrial fatty acyl coenzyme A dehydrogenases indicating that BEA or its metabolites have similar metabolic consequences. " Order ALL the reference details at left...
8.	AcidsIBA 03/01/2003 - "Metabolic studies and urine organic acids were suggestive of a multiple acyl-CoA dehydrogenase deficiency. " 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. " 11/01/2004 - "Effect of L-carnitine (LC) on the metabolism of organic acids and carnitine homeostasis was studied in rats with riboflavin deficiency producing unusual dicarboxylic acidurea and modeling multiple acyl-CoA dehydrogenase deficiency in humans. " Order ALL the reference details at left...
9.	Electron-Transferring Flavoproteins (Electron Transfer Flavoprotein)IBA 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." 01/01/1980 - "Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an 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." 03/01/2009 - "Multiple acyl-CoA dehydrogenase deficiency (MADD) is a metabolic disorder due to dysfunction of electron transfer flavoprotein (ETF) or ETF-ubiquinone oxidoreductase (ETF-QO). " Order ALL the reference details at left...
10.	Acyl-CoA DehydrogenasesIBA 11/01/1994 - "Organic acid urinalysis was consistent with the diagnosis of multiple acyl-CoA dehydrogenase deficiency or glutaric acidemia type II. In cultured lymphoblastoid cells from this patient there was impaired beta-oxidation, but the activities of acyl-CoA dehydrogenases were normal. " 01/01/1984 - "Two sibs with the acute neonatal form of glutaric aciduria type II (deficient in vivo activity of multiple acyl-CoA dehydrogenases) are described. " 12/01/1980 - "Glutaric aciduria type II: in vitro studies on substrate oxidation, acyl-CoA dehydrogenases, and electron-transferring flavoprotein in cultured skin fibroblasts." 07/01/1986 - "He had glutaric aciduria type II, and his cultured fibroblasts contained normal activity of four different acyl CoA dehydrogenases, but there was deficiency of electron transfer flavoprotein:ubiquinone oxidoreductase (ETF-QO). " 12/01/1979 - "These results indicated that in the proband, degradative pathways of fatty acids, lysine, and leucine are blocked at the steps of butyryl-CoA, glutaryl-CoA, and isovaleryl-CoA dehydrogenases, respectively, as in the case of glutaric aciduria type II. Because activities of multiple acyl-CoA dehydrogenases are reduced, a deficiency of electron-transferring flavoprotein, which serves as a hydrogen-acceptor for these dehydrogenases, is postulated as the underlying mechanisms of these two diseases, but a genetic heterogeneity was indicated by significant differences in the residual activities in these two types of cells. " Order ALL the reference details at left...

Therapies and Procedures

1.	Intensive Care (Surgical Intensive Care) 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. " Order ALL the reference details at left...

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