MediFind found 257 doctor with experience in 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Of these, 135 are Experienced, 108 are Advanced, 9 are Distinguished and 5 are Elite.
Sarah Grunert practices in Freiburg, Germany. Ms. Grunert is rated as an Elite expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Her top areas of expertise are 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Glycogen Storage Disease Type 6, Mitochondrial Trifunctional Protein Deficiency, and Carnitine Palmitoyltransferase 1 Deficiency.
Grant Mitchell practices in Montreal, Canada. Mr. Mitchell is rated as an Elite expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. His top areas of expertise are Mckusick-Kaufman Syndrome, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Transcobalamin Deficiency, Polymicrogyria, and Liver Transplant.
Moacir Wajner practices in Porto Alegre, Brazil. Wajner is rated as an Elite expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Their top areas of expertise are Medium-Chain Acyl-CoA Dehydrogenase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Glutaric Acidemia Type 1, and Sulfite Oxidase Deficiency.
Jan Vaclavik practices in Ostrava, Czech Republic. Vaclavik is rated as an Elite expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Their top areas of expertise are 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Hypertension, Hyperaldosteronism, Kidney Transplant, and Cardiac Ablation.
Dominique Roland practices in Gosselies, Belgium. Roland is rated as an Elite expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Their top areas of expertise are 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Carnitine Palmitoyltransferase 2 Deficiency, Carnitine Palmitoyltransferase 1 Deficiency, and Urea Cycle Disorders (UCD).
Emory Clinic At 1365 Clifton Road
William Wilcox is a Medical Genetics provider in Atlanta, Georgia. Dr. Wilcox has been practicing medicine for over 38 years and is rated as an Advanced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. His top areas of expertise are Fabry Disease, Achondroplasia, Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome).
Johns Hopkins All Children's Outpatient Care, St. Petersburg
Meral Gunay-Aygun is a professor of pediatrics and genetic medicine at Johns Hopkins University School of Medicine. Dr. Gunay-Aygun specializes in the diagnosis and treatment of children and adults with inherited metabolic diseases including diagnostic evaluation and follow-up of newborns with abnormal newborn screens for inherited metabolic diseases. After serving 14 years as an attending physician at The Johns Hopkins Hospital in Baltimore, she joined the medical staff of Johns Hopkins All Children’s Hospital in St. Petersburg, Florida in 2022. Dr. Gunay-Aygun earned her medical degree from Hacettepe University School of Medicine, Ankara, Turkey. She completed pediatrics and medical genetics residencies at Case Western Reserve University, Cleveland, Ohio, and a biochemical genetics fellowship at the National Institutes of Health’s National Human Genome Research Institute, Bethesda, Maryland. She has made numerous research contributions, especially in the study of inherited ciliopathies, for which she has earned international recognition. Dr. Gunay-Aygun received the Innovative Leadership Award from Genetic Alliance, as well as the NHGRI Merit Award for her research on Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis. She is a member of myriad professional organizations, including the American Society of Human Genetics, the American Academy of Pediatrics, the Society of Pediatric Research and the Society for Inherited Metabolic Disorders. Dr. Gunay 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 Phenylketonuria (PKU), Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, and Argininosuccinic Aciduria.
Carolina Fernandes practices in Porto Alegre, Brazil. Ms. Fernandes is rated as a Distinguished expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Her top areas of expertise are 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency and Glutaric Acidemia Type 1.
Carmen Vargas practices in Porto Alegre, Brazil. Ms. Vargas is rated as a Distinguished expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Her top areas of expertise are Maple Syrup Urine Disease, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Glutaric Acidemia Type 1, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, and Bone Marrow Transplant.
George Diaz is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Diaz is rated as a Distinguished provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. His top areas of expertise are Argininosuccinic Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Urea Cycle Disorders (UCD), and Ornithine Transcarbamylase Deficiency.
Jorn Sass practices in Rheinbach, Germany. Mr. Sass is rated as a Distinguished expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. His top areas of expertise are Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Beta-Ketothiolase Deficiency, and Molybdenum Cofactor Deficiency (MoCD).
Julie De Sousa practices in Olomouc, Czech Republic. Ms. De Sousa is rated as a Distinguished expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Her top areas of expertise are 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Carnitine Palmitoyltransferase 1 Deficiency, and Adenylosuccinate Lyase Deficiency.
Tomas Adam practices in Olomouc, Czech Republic. Mr. Adam is rated as a Distinguished expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. His top areas of expertise are Carnitine Palmitoyltransferase 1 Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Adenylosuccinate Lyase Deficiency, and Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
Leo Kluijtmans practices in Nijmegen, Netherlands. Mr. Kluijtmans is rated as a Distinguished expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. His top areas of expertise are 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Cerebrotendinous Xanthomatosis, Xanthoma, and Orotic Aciduria Type 1.
David Friedecky practices in Olomouc, Czech Republic. Mr. Friedecky is rated as a Distinguished expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. His top areas of expertise are Carnitine Palmitoyltransferase 1 Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Adenylosuccinate Lyase Deficiency, and Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
Felix Bischof practices in Boeblingen, Germany. Mr. Bischof is rated as a Distinguished expert by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. His top areas of expertise are 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, CACH Syndrome, Progressive Multifocal Leukoencephalopathy, and Multiple Sclerosis (MS).
Richard Chang is a Medical Genetics provider in Orange, California. Dr. Chang is rated as an Advanced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. His top areas of expertise are Citrullinemia, Beta-Ketothiolase Deficiency, Urea Cycle Disorders (UCD), and Biotinidase Deficiency. Dr. Chang is currently accepting new patients.
Maryland Perinatal Associates
Donna Raval is a Neonatologist in Fulton, Maryland. Dr. Raval 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 Premature Infant, Placental Insufficiency, Polyhydramnios, and Methimazole Antenatal Exposure.
Duke University Hospital
Dwight Koeberl is a Medical Genetics specialist and a Pediatrics provider in Durham, North Carolina. Dr. Koeberl is rated as an Experienced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. His top areas of expertise are Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Propionic Acidemia. Dr. Koeberl is currently accepting new patients.
Duke Health Integrated Practice Inc
Dmitriy Niyazov is a Medical Genetics provider in Durham, North Carolina. Dr. Niyazov is rated as an Experienced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. His top areas of expertise are Early Infantile Epileptic Encephalopathy, Macroglossia, Ehlers-Danlos Syndrome (EDS), and Microcephaly.
Last Updated: 01/09/2026



