... mitochondrial respiratory chain defects and multiple acyl-CoA dehydrogenase deficiency. In terms of treatment for this ... Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is an autosomal recessive fatty acid oxidation disorder which ... The diagnosis of short-chain acyl-coenzyme A dehydrogenase deficiency is based on the following: Newborn screening test Genetic ... Scholia has a topic profile for Short-chain acyl-coenzyme A dehydrogenase deficiency. (Articles with short description, Short ...

"Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency". Muscle & Nerve. 52 (2): 289-93. doi ... It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but ... Wen B, Li D, Li W, Zhao Y, Yan C (June 2015). "Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile ... "ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency". Brain. 130 (Pt 8): ...

This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product ... Alternative splicing results in multiple transcript variants encoding different isoforms. The ACADVL gene contains 20 exons, ... Mutations in the ACADVL are associated with very long-chain acyl-coenzyme A dehydrogenase deficiency. The protein encoded by ... GeneReviews/NCBI/NIH/UW entry on Very long-chain acyl-coenzyme A dehydrogenase deficiency Human ACADVL genome location and ...

Sanfilippo syndrome Smith-Magenis syndrome Usher syndrome Very long-chain acyl-coenzyme A dehydrogenase deficiency Von Gierke's ... Articles with short description, Short description matches Wikidata, Pages using multiple image with manual scaled images, ... acyl-coenzyme A dehydrogenase, very long chain (17p13.1) SHBG: Sex hormone binding globulin (17p13.1) TP53: tumor suppressor ... palsies Howel-Evans syndrome Li-Fraumeni syndrome Maturity onset diabetes of the young type 5 Miller-Dieker syndrome Multiple ...

Deficiency in ETF dehydrogenase causes the human genetic disease multiple acyl-CoA dehydrogenase deficiency. ETQ-QO links the ... Rhead W, Roettger V, Marshall T, Amendt B (Feb 1993). "Multiple acyl-coenzyme A dehydrogenation disorder responsive to ... Singla M, Guzman G, Griffin AJ, Bharati S (Mar 2008). "Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico- ... also known as MADD for multiple acyl-CoA dehydrogenase deficiency), in which there is an improper buildup of fats and proteins ...

A rare disease called multiple acyl-CoA dehydrogenase deficiency (MADD) is a fatty acid metabolism disorder. Acyl-CoA is ... The enzyme acyl-CoA thioesterase takes of the acyl-CoA to form a free fatty acid and coenzyme A. The second step of fatty acid ... Beta oxidation of acyl-CoA occurs in four steps. 1. Acyl-CoA dehydrogenase catalyzes dehydrogenation of the acyl-CoA, creating ... "Multiple Acyl CoA dehydrogenase deficiency: Uncommon yet treatable disorder". Neurology India. 65 (1): 177-8. doi:10.4103/0028- ...

"Multiple acyl-CoA dehydrogenase deficiency". Orphanet. INSERM and the European Commission. Retrieved 30 August 2018. "Glutaric ... Depending on the subtype, riboflavin (100-400 mg/day), coenzyme Q10 (CoQ10), L-carnitine, or glycine supplements may be used to ... "Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy". Pediatr Res. 77 ( ... L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)". The Lancet. 361 (9367): 1433-5. doi: ...

... deficiency of subtypes of acyl CoA dehydrogenase (LCAD, SCAD, MCAD, VLCAD, 3-hydroxyacyl-coenzyme A dehydrogenase deficiency), ... Often, multiple incisions are made and left open until the swelling has reduced. At that point, the incisions are closed, often ... deficiency of succinate dehydrogenase, cytochrome c oxidase and coenzyme Q10 Others: glucose-6-phosphate dehydrogenase ... Multiple causes can be present simultaneously in one person. Some have an underlying muscle condition, usually hereditary in ...

Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency". Journal of Inherited Metabolic Disease. 44 (4): ... Crotonyl-coenzyme A Acetoacetyl CoA Beta-hydroxybutyryl-CoA dehydrogenase Numa, S.; Ishimura, Y.; Nishizuka, Y.; Hayaishi, O. ( ... β-Hydroxybutyryl-CoA (or 3-hydroxybutyryl-coenzyme A) is an intermediate in the fermentation of butyric acid, and in the ... Thioesters of coenzyme A, All stub articles, Biochemistry stubs). ...

... acyl-coenzyme A dehydrogenase deficiency Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Very long-chain acyl- ... nerve injury Myasthenia gravis Congenital myasthenic syndrome Lambert-Eaton myasthenic syndrome Isaac's syndrome Multiple ... coenzyme A dehydrogenase deficiency Myoadenylate deaminase (MADA) deficiency Inclusion body myositis Dermatomyositis ... Lactate dehydrogenase deficiency) GSD type X (Phosphoglycerate mutase deficiency) Phosphoglycerate kinase deficiency Carnitine ...

"OMIM Entry - # 231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD". www.omim.org. Toogood HS, Leys D, Scrutton NS ( ... "The purification and some properties of electron transfer flavoprotein and general fatty acyl coenzyme A dehydrogenase from pig ... Defects in either of the ETF subunits or ETFDH cause multiple acyl CoA dehydrogenase deficiency (OMIM # 231680), earlier called ... "Multiple Acyl-CoA Dehydrogenase Deficiency". PMID 32550677. {{cite journal}}: Cite journal requires ,journal= (help) Henriques ...

It is reported that, every year, 1 in 20,000 infants is born with a deficiency in his/her medium-chain acyl-CoA dehydrogenases ... Bode, K.; Hooks, M.A.; Couee, I. (1999). "Identification, separation, and characterization of acyl-coenzyme A dehydrogenases ... Dehydrogenase at the U.S. National Library of Medicine Medical Subject Headings (MeSH) Portal: Biology (CS1 maint: multiple ... Medium-chain acyl-CoA dehydrogenase deficiencies (MCADD) are well known and characterized because they occur most commonly ...

"OMIM Entry - # 231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD". www.omim.org. Toogood HS, Leys D, Scrutton NS ( ... "The purification and some properties of electron transfer flavoprotein and general fatty acyl coenzyme A dehydrogenase from pig ... Defects in either of the ETF subunits or ETFDH cause multiple acyl CoA dehydrogenase deficiency (OMIM # 231680), earlier called ... cite journal}}: Cite journal requires ,journal= (help) "OMIM Entry - # 231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; ...

... medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD deficiency); infant botulism; long QT syndrome (accounting for less ... Deaths from SIDS are unlikely to be due to a single cause, but rather to multiple risk factors. The frequency of SIDS does ... CS1 maint: multiple names: authors list, Webarchive template wayback links, CS1 German-language sources (de), Articles with ... Glatt J (2000). Cradle of Death: A Shocking True Story of a Mother, Multiple Murder, and SIDS. Macmillan. ISBN 978-0-312-97302- ...

May 2013). "Multiple propionyl coenzyme A-supplying pathways for production of the bioplastic poly(3-hydroxybutyrate-co-3- ... Genetic deficiencies regarding the production and breakdown of propionyl-CoA also have great clinical and human significance. ... PCC not only catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA, but also acts on several different acyl-CoAs. ... For example, inhibition of pyruvate dehydrogenase by an accumulation of propionyl-CoA in Rhodobacter sphaeroides can prove ...

... may carry high risk of sudden cardiac death maple syrup urine disease medium-chain acyl-coenzyme A dehydrogenase deficiency ... Pages using multiple image with manual scaled images, Commons category link is on Wikidata, Chromosomes (human), Genes on human ... acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain ACTG1P6: encoding protein Actin, gamma 1 pseudogene 6 ACTL8: Actin- ... Carnitine palmitoyltransferase II deficiency Charcot-Marie-Tooth disease, types 1 and 2 collagenopathy, types II and XI ...

1-Dichloroethene 2-methylbutyryl-coenzyme A dehydrogenase deficiency 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency 3- ... Triple A syndrome Tumors Tyrosinaemia type 1 Urea cycle disorder Uremia Very-long-chain acyl-CoA dehydrogenase deficiency ... Armenian Medical Network.{{cite web}}: CS1 maint: multiple names: authors list (link) (CS1 maint: multiple names: authors list ... Glucagon deficiency Glucose 6 phosphate dehydrogenase deficiency Glutaric acidemia type 2 Glycogen debranching deficiency ...

Ketoacidosis is most commonly caused by a deficiency of insulin in type 1 diabetes or late stage type 2 diabetes but can also ... Fatty acids bound to coenzyme A allow penetration into mitochondria. Once inside the mitochondrion, the bound fatty acids are ... This may develop in late pregnancy in ewes bearing multiple fetuses and is associated with the considerable metabolic demands ... Acetoacetate can then reversibly convert to another ketone body-D-β-hydroxybutyrate-via D-β-hydroxybutyrate dehydrogenase. ...

Multiple p Multiple acyl-CoA deficiency Multiple carboxylase deficiency, biotin responsive Multiple carboxylase deficiency, ... mut-0 Methylmalonyl-Coenzyme A mutase deficiency Mevalonate kinase deficiency Mevalonicaciduria Meyenburg-Altherr-Uehlinger ... lip Mediastinal endodermal sinus tumors Mediastinal syndrome Mediterranean fever Medium-chain Acyl-CoA dehydrogenase deficiency ... Multiple v Multiple sclerosis ichthyosis factor VIII deficiency Multiple sclerosis Multiple subcutaneous angiolipomas Multiple ...

"Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency". Annals ... The resulting hemithioacetal undergoes decarboxylation to produce an acyl anion equivalent (see cyanohydrin or aldehyde- ... PDC is a large complex composed of multiple copies of 3 or 4 subunits depending on species. In Gram-negative bacteria, e.g. ... of lipoyl to the thiol of coenzyme A. This produces acetyl-CoA, which is released from the enzyme complex and subsequently ...

Shock Shokeir syndrome Short bowel syndrome Short broad great toe macrocranium Short-chain acyl-CoA dehydrogenase deficiency ... Subependymal nodular heterotopia Subpulmonary stenosis Subvalvular aortic stenosis Succinate coenzyme Q reductase deficiency of ... multiple types) Spinocerebellar ataxia amyotrophy deafness Spinocerebellar ataxia dysmorphism Spinocerebellar atrophy type 3 ... Succinic semialdehyde dehydrogenase deficiency Succinyl-CoA acetoacetate transferase deficiency Sucrase-isomaltase deficiency ...

Other inborn errors of metabolism include riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, also known as a ... Riboflavin is essential to the formation of two major coenzymes, FMN and FAD. These coenzymes are involved in energy metabolism ... and riboflavin transporter deficiency. Riboflavin deficiency is usually found together with other nutrient deficiencies, ... Riboflavin deficiency is rare and is usually accompanied by deficiencies of other vitamins and nutrients. It may be prevented ...

Many organic cofactors also contain a nucleotide, such as the electron carriers NAD and FAD, and coenzyme A, which carries acyl ... Salisbury SA, Forrest HS, Cruse WB, Kennard O (August 1979). "A novel coenzyme from bacterial primary alcohol dehydrogenases". ... Although chromium deficiency causes impaired glucose tolerance, no human enzyme that uses this metal as a cofactor has been ... Søballe B, Poole RK (August 1999). "Microbial ubiquinones: multiple roles in respiration, gene regulation and oxidative stress ...

"Inhibition of glucose-6-phosphate dehydrogenase by long chain acyl-coenzyme A". Biochemical and Biophysical Research ... Glucose-6-phosphate dehydrogenase deficiency is very common worldwide, and causes acute hemolytic anemia in the presence of ... Multiple sequence alignment of over 100 known G6PDs from different organisms reveal sequence identity ranging from 30% to 94%. ... Glucose-6-phosphate dehydrogenase deficiency Genetic resistance to malaria Thomas D, Cherest H, Surdin-Kerjan Y (March 1991). " ...

AASDH: aminoadipate-semialdehyde dehydrogenase ACVR1: activin-like kinase 2 (ALK-2) ACOX3: encoding enzyme Peroxisomal acyl- ... cobalamin deficiency) cblA type MTHFD2L: NAD-dependent methylenetetrahydrofolate dehydrogenase 2-like protein MYL5: Myosin ... Articles with short description, Short description matches Wikidata, Pages using multiple image with manual scaled images, ... coenzyme A oxidase 3 AFAP1-AS1: encoding protein AFAP1 antisense RNA 1 AGA: AGU syndrome (Finnish heritage disease) related ...

... such as for multiple acyl-CoA dehydrogenase deficiency. In addition, riboflavin deficiency itself (and the resulting lack of ... The 1930s launched the field of coenzyme research with the publication of many flavin and nicotinamide derivative structures ... short/branched-chain acyl-CoA dehydrogenase), valine (isobutyryl-CoA dehydrogenase), and lysine (glutaryl-CoA dehydrogenase). ... components of the succinate dehydrogenase complex, α-ketoglutarate dehydrogenase, and a component of the pyruvate dehydrogenase ...

It was recommended[by whom?] in 2006 that one disorder, Short Chain Acyl-coenzyme A Dehydrogenase Deficiency, or SCAD, be ... PMID 12777559.{{cite journal}}: CS1 maint: multiple names: authors list (link) Schoen EJ; Baker JC; Colby CJ; To TT (October ... Medium chain acyl-CoA dehydrogenase deficiency (MCADD), which had been implicated in several cases of sudden infant death ... Prior to its inclusion in newborn screening, short-chain acyl-CoA dehydrogenase deficiency (SCADD) was thought to be life- ...

"The effect of a nicotinic acid deficiency upon the coenzyme I content of animal tissues". J. Biol. Chem. 131 (1): 85-93. doi: ... glucose-6-phosphate dehydrogenase, and methylenetetrahydrofolate reductase can use both coenzymes in some species. The redox ... Chemical articles with multiple compound IDs, Multiple chemicals in an infobox that need indexing, Chemical articles with ... This radical then reacts with NADH, to produce adducts that are very potent inhibitors of the enzymes enoyl-acyl carrier ...

... the fatty acyl group is transferred from fatty acyl-carnitine to coenzyme A, regenerating fatty acyl-CoA and a free carnitine ... the fatty acyl-CoA dehydrogenases for short, medium, long, and very long acyl chains, and related enzymes. PPARα functions as a ... Two types of carnitine deficiency states exist. Primary carnitine deficiency is a genetic disorder of the cellular carnitine- ... Multiple chemicals in Infobox drug, Chemicals using indexlabels, Chemical articles with multiple CAS registry numbers, ...

CMAMMA can be divided by causation into two separate inherited disorders: one is a deficiency of the mitochondrial enzyme acyl- ... "Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple ... such as pyruvate dehydrogenase complex (PDHC) and α-ketoglutarate dehydrogenase complex (α-KGDHC), among others. This ... Brown, G. K.; Scholem, R. D.; Bankier, A.; Danks, D. M. (1984). "Malonyl coenzyme a decarboxylase deficiency". Journal of ...