What is HMG CoA lyase deficiency?
HMG CoA lyase deficiency is an inherited disorder in which the body cannot process a protein called leucine or make ketones. Ketones are used for energy during periods of fasting.
What is the function of the HMG CoA lyase?
HMG-CoA lyase plays a critical role in breaking down proteins and fats from the diet. Specifically, it is responsible for processing leucine, a protein building block (amino acid) that is part of many proteins. HMG-CoA lyase also produces ketones during the breakdown of fats.
What is HMG-CoA in biochemistry?
β-Hydroxy β-methylglutaryl-CoA (HMG-CoA), also known as 3-hydroxy-3-methylglutaryl-CoA, is an intermediate in the mevalonate and ketogenesis pathways. HMG-CoA is a metabolic intermediate in the metabolism of the branched-chain amino acids, which include leucine, isoleucine, and valine.
What regulates HMG CoA synthase?
HMG-CoA synthase promoter activity is regulated by insulin or EGF. Luciferase activity in HaCaT keratinocytes transfected with a luciferase reporter construct containing the wild-type HMG-CoA synthase promoter.
What is a lyase deficiency?
Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures.
What does HMG-CoA reductase stand for?
HMG-CoA reductase (3-hydroxy-3-methyl-glutaryl-coenzyme A reductase, official symbol HMGCR) is the rate-controlling enzyme (NADH-dependent, EC 1.1. This enzyme is the target of the widely available cholesterol-lowering drugs known collectively as the statins, which help treat dyslipidemia.
What is the role of HMG-CoA reductase?
HMG-CoA Reductase (or 3-hydroxy-3-methyl-glutaryl-CoA reductase or HMGR) is the rate-controlling enzyme of the mevalonate pathway, responsible for cholesterol and other isoprenoid biosynthesis. HMGR is a transmembrane protein, containing 8 domains, that is anchored in the membrane of the endoplasmic reticulum.
Why is HMG-CoA reductase important?
HMG-CoA reductase is the rate-limiting enzyme of cholesterol biosynthesis. The expression level of this membrane-bound enzyme is controlled by many factors that in turn regulate cholesterol synthesis and cellular cholesterol homeostasis (reviewed in [1]).
Where is HMG-CoA synthase located?
The cytosolic or cholesterogenic isozyme provides the HMG-CoA destined for isoprenoid biogenesis, a process that occurs in the cytosol. Linkage analysis revealed that the mouse genes that encode the cytosolic and mitochondrial HMG-CoA synthases are located on different chromosomes.
What is ASL deficiency?
Defect: Argininosuccinate Lyase (ASL) Deficiency, also known as Argininosuccinic Aciduria (AA), is the result of a mutated or deficient argininosuccinate lyase enzyme. This defective or deficient enzyme leads to inadequate ureagenesis, accumulation of argininosuccinic acid, and deficient endogenous arginine production.