*Short-chain acyl-coenzyme A dehydrogenase deficiency

... mitochondrial respiratory chain defects and multiple acyl-CoA dehydrogenase deficiency. In terms of treatment for short-chain ... Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD), also called ACADS deficiency and SCAD deficiency, is an autosomal ... The diagnosis of short-chain acyl-coenzyme A dehydrogenase deficiency is based on the following: Newborn screening test Genetic ... Short-chain acyl-coenzyme A dehydrogenase deficiency affected infants will have vomiting, low blood sugar, a lack of energy ( ...

*ACADVL

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, ... "Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency". 1993. PMID 20301763. GeneReviews/NCBI/NIH/UW entry on Very long- ... Mutations in the ACADVL are associated with very long-chain acyl-coenzyme A dehydrogenase deficiency. The protein encoded by ...

*Chromosome 17 (human)

... syndrome Proximal symphalangism Smith-Magenis syndrome Usher syndrome Very long-chain acyl-coenzyme A dehydrogenase deficiency ... palsies Howel-Evans syndrome Li-Fraumeni syndrome Maturity onset diabetes of the young type 5 Miller-Dieker syndrome Multiple ... acyl-coenzyme A dehydrogenase, very long chain (17p13.1) SHBG: Sex hormone binding globulin (17p13.1) TP53: tumor suppressor ...

*Electron-transferring-flavoprotein dehydrogenase

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 ...

*ETFDH

2007). "ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency". Brain. 130 (Pt ... "The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase ( ... "Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency". Hum ... Deficiency in electron-transferring-flavoprotein dehydrogenase have been demonstrated in some patients with type II ...

*Rhabdomyolysis

... 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 ...

*Chromosome 1 (human)

... may carry high risk of sudden cardiac death maple syrup urine disease medium-chain acyl-coenzyme A dehydrogenase deficiency ... CS1 maint: Multiple names: authors list (link) Revera, M.; Van Der Merwe, L; et al. (2007). "Long-term follow-up of R403WMHY7 ... acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain ACTL8: Actin-like 8 ADGRL2 (1p31.1): adhesion G protein-coupled ... CS1 maint: Multiple names: authors list (link) CS1 maint: Explicit use of et al. (link) Pertea M, Salzberg SL (2010). "Between ...

*Pyruvate dehydrogenase complex

Pyruvate dehydrogenase deficiency Izard T, Aevarsson A, Allen MD, Westphal AH, Perham RN, de Kok A, Hol WG (1999). "Principles ... PDC is a large complex composed of multiple copies of 3 or 4 subunits depending on species. In Gram-negative bacteria, e.g. ... The resulting hemithioacetal undergoes decarboxylation to produce an acyl anion equivalent (see cyanohydrin or aldehyde- ... of lipoyl to the thiol of coenzyme A. This produces acetyl-CoA, which is released from the enzyme complex and subsequently ...

*List of causes of hypoglycemia

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 ... hepatocerebral form Mitochondrial trifunctional protein deficiency Multiple endocrine neoplasia Munchausen syndrome Myxedema ... Cibenzoline Cirrhosis Cleft lip palate pituitary deficiency Clove Coenzyme Q cytochrome c reductase deficiency Deficiency in ...

*Chromosome 4 (human)

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 ... CS1 maint: Multiple names: authors list (link) Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson ... coenzyme A oxidase 3 AGPAT9: encoding enzyme Glycerol-3-phosphate acyltransferase 3 a.k.a. 1-acylglycerol-3-phosphate O- ...

*List of diseases (M)

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 ...

*List of diseases (S)

Short bowel syndrome Short broad great toe macrocranium Short-chain acyl-CoA dehydrogenase deficiency Short limb dwarf lethal ... 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 ...

*Cofactor (biochemistry)

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 (1999). "Microbial ubiquinones: multiple roles in respiration, gene regulation and oxidative stress ...

*Flavin adenine dinucleotide

... 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). ... including α-ketoglutarate dehydrogenase and a component of the pyruvate dehydrogenase complex; some examples are shown in ...

*Sudden infant death syndrome

... medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD deficiency); infant botulism; long QT syndrome (accounting for less ... Glatt, John (2000). Cradle of Death: A Shocking True Story of a Mother, Multiple Murder, and SIDS. Macmillan. ISBN 0-312-97302- ... an infant with MCAD deficiency could have died by "classical SIDS" if found swaddled and prone with head covered in an ... means the infant may have died either from SIDS or from MCAD deficiency. It is currently impossible for the pathologist to ...

*List of OMIM disorder codes

SCARB2 Acyl-CoA dehydrogenase, long chain, deficiency of; 201460; ACADL Acyl-CoA dehydrogenase, medium chain, deficiency of; ... COQ2 Coenzyme Q10 deficiency; 607426; COQ9 Coenzyme Q10 deficiency; 607426; PDSS1 Coenzyme Q10 deficiency; 607426; PDSS2 Coffin ... CHRND Multiple pterygium syndrome, lethal type; 253290; CHRNG Multiple sulfatase deficiency; 272200; SUMF1 Multiple synostoses ... CHUK Coenzyme Q10 deficiency; 607426; APTX Coenzyme Q10 deficiency; 607426; CABC1 Coenzyme Q10 deficiency; 607426; ...

*Biosynthesis

... which gets converted to lysophosphatidate via the addition of a fatty acid chain provided by acyl coenzyme A. Then, ... Deficiencies in the formation of LDL receptors may cause faulty receptors which disrupt the endocytic pathway, inhibiting the ... Aspartate-semialdehyde dehydrogenase catalyzes the reduction reaction by dephosphorylation of aspartyl-β-phosphate to yield ... usually as part of a multiple step reaction pathway. Two examples of this type of reaction occur during the formation of ...