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HMGCL is found on chromosome 1p36.11's short arm and codes for the enzyme 3-hydroxymethyl-3-methylglutaryl-coenzyme A lyase (HMG-CoA lyase). [4] [5] This mitochondrial enzyme contributes to the metabolism of dietary proteins by converting HMG-CoA into acetyl-CoA and acetoacetate, which is the last stage of the breakdown of leucine and fat for ...
Deficiency HMG-CoA lyase deficiency causes hypoketotic hypoglycemia similar to that is caused by HMGCS2 mutations but also leads to organic acid accumulation and metabolic acidosis due to altered leucine metabolism. This disorder can be mistaken for Reye syndrome because of the symptoms of vomiting, lethargy, and convulsions. Ketogenesis
Carnitine Palmitoyl Transferase I & II ( CPT I deficiency & CPT II deficiency) 2,4 Dienoyl-CoA Reductase Deficiency; Electron Transfer Flavoprotein (ETF) Dehydrogenase Deficiency (GA-II/MADD) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG deficiency) Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD deficiency)
HMG-CoA reductase (3-hydroxy-3-methyl-glutaryl-coenzyme A reductase, official symbol HMGCR) is the rate-controlling enzyme (NADH-dependent, EC 1.1.1.88; NADPH-dependent, EC 1.1.1.34) of the mevalonate pathway, the metabolic pathway that produces cholesterol and other isoprenoids.
β-Hydroxy β-methylglutaryl-CoA (HMG-CoA), also known as 3-hydroxy-3-methylglutaryl coenzyme A, is an intermediate in the mevalonate and ketogenesis pathways. It is formed from acetyl CoA and acetoacetyl CoA by HMG-CoA synthase. The research of Minor J. Coon and Bimal Kumar Bachhawat in the 1950s at University of Illinois led to its discovery ...
The mevalonate pathway of eukaryotes, archaea, and eubacteria all begin the same way. The sole carbon feed stock of the pathway is acetyl-CoA. The first step condenses two acetyl-CoA molecules to yield acetoacetyl-CoA. This is followed by a second condensation to form HMG-CoA (3-hydroxy-3- methyl-glutaryl-CoA). Reduction of HMG-CoA yields (R ...
3-hydroxyisovalerylcarnitine is also elevated in other metabolism disorders such as 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, biotinidase deficiency, multiple carboxylase deficiency, mitochondrial acetoacetyl-CoA thiolase deficiency and malonic aciduria. 3-Methylcrotonyl-CoA carboxylase deficiency is differentiated by the lack of other ...
In the middle of the 20th century the principal treatment for some of the amino acid disorders was restriction of dietary protein and all other care was simply management of complications. In the past twenty years, new medications, enzyme replacement, gene therapy, and organ transplantation have become available and beneficial for many ...