3-Hydroxy-3-Methylglutaryl-CoA Lyase DeficiencySymptoms, Doctors, Treatments, Advances & More
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.
Grant Mitchell practices practicing medicine in Montreal, Canada. Mr. Mitchell is rated as an Elite expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Mckusick-Kaufman Syndrome, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Transcobalamin Deficiency, Polymicrogyria, and Liver Transplant.
Moacir Wajner practices practicing medicine in Porto Alegre, Brazil. Wajner is rated as an Elite expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. They are also highly rated in 26 other conditions, according to our data. Their clinical expertise encompasses Medium-Chain Acyl-CoA Dehydrogenase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Glutaric Acidemia Type 1, and Sulfite Oxidase Deficiency.
Emory Clinic At 1365 Clifton Road
William Wilcox is a Medical Genetics provider practicing medicine in Atlanta, Georgia. He has been practicing medicine for over 38 years. Dr. Wilcox is rated as an Advanced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Fabry Disease, Achondroplasia, Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). Dr. Wilcox is board certified in American Board Of Medical Genetics And Genomics, 1996.
Published Date: March 01, 2017
Published By: National Institutes of Health