3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Overview
Learn About 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are compounds that are used for energy during periods without food (fasting).
Mutations in the HMGCL gene cause HMG-CoA lyase deficiency. The HMGCL gene provides instructions for making an enzyme known as 3-hydroxymethyl-3-methylglutaryl-coenzyme A lyase (HMG-CoA lyase). This enzyme plays a critical role in breaking down dietary proteins and fats for energy. Specifically, it is responsible for processing leucine, an amino acid that is part of many proteins. HMG-CoA lyase also produces ketones during the breakdown of fats. Ketones are compounds that certain organs and tissues, particularly the brain, use for energy when the simple sugar glucose is not available. For example, ketones are important sources of energy during periods of fasting.
HMG-CoA lyase deficiency is a rare condition; it has been reported in fewer than 100 individuals worldwide. Most people diagnosed with this disorder have been from Saudi Arabia, Portugal, or Spain.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Children's Hospital Medical Center
Nancy Leslie is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Leslie and is rated as an Advanced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Her top areas of expertise are Pompe Disease, Ornithine Transcarbamylase Deficiency, Argininosuccinic Aciduria, and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Dr. Leslie is currently accepting new patients.
Summary: Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests. IEM most commonly manifest in early infancy and childhood. Despite the fact that most IEM are rare in the population, they occupy one of the first places in the structure of childhood pathology, earl...
Published Date: March 01, 2017
Published By: National Institutes of Health