The 20 Best 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Doctors in The United States

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.

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. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Dr. Gunay is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

George Diaz is a Medical Genetics specialist and a Pediatrics provider practicing medicine 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. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Argininosuccinic Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Urea Cycle Disorders (UCD), and Ornithine Transcarbamylase Deficiency.

Luis Umana is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Umana 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 177 other conditions, according to our data. His clinical expertise encompasses Classic Galactosemia, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Biotinidase Deficiency, and Argininosuccinic Aciduria.

Garrett Gotway is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Gotway 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 132 other conditions, according to our data. His clinical expertise encompasses Caudal Duplication, 2q37 Deletion Syndrome, 47 XYY Syndrome, and Marshall Syndrome.

Richard Chang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chang 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 156 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Arginase Deficiency, and Urea Cycle Disorders (UCD). Dr. Chang is currently accepting new patients.

Donna Raval is a Medical Genetics specialist and an Obstetrics and Gynecologist practicing medicine in Fairfax, Virginia. Dr. Raval is rated as an Advanced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Premature Infant, Placental Insufficiency, Polyhydramnios, and Methimazole Antenatal Exposure.

Markey Mcnutt is an Internal Medicine specialist and an Endocrinologist practicing medicine in Dallas, Texas. Dr. Mcnutt 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 122 other conditions, according to our data. His clinical expertise encompasses Ornithine Transcarbamylase Deficiency, Ornithine Translocase Deficiency, Phenylketonuria (PKU), and Megalencephalic Leukoencephalopathy with Subcortical Cysts.

Laura Mackay is a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Mackay is rated as an Advanced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. She is also highly rated in 132 other conditions, according to our data. Her clinical expertise encompasses Isovaleric Acidemia, Beta-Ketothiolase Deficiency, Biotinidase Deficiency, and Adrenoleukodystrophy (ALD).

I see patients with mitochondrial and lysosomal storage diseases, developmental delay, intellectual disability, chromosomal disorders, congenital defects, short stature, failure to thrive, and adult genetic disorders. I love the application of rapidly growing genetic knowledge to treat patients with a variety of medical problems that involve a complex interaction of genetic and environmental factors, particularly since the Human Genome Project. I find it fascinating to use the massive power of sequencing technology and artificial intelligence/machine learning to predict phenotypes from genotypes with increasing clinical relevance to human health. In my spare time, I like to hike and play sports with my wife and teenage sons, play piano, and learn famous Russian poetry of the 19th century. I see patients in person and through telehealth. Dr. Niyazov is rated as an Experienced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Early Infantile Epileptic Encephalopathy, Macroglossia, Ehlers-Danlos Syndrome (EDS), and Hypotonia. Dr. Niyazov is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics And Genomics - General.

Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 8 years. Dr. Priestley is rated as an Experienced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics, American Board Of Medical Genetics And Genomics, and American Board Of Pediatrics.

Dr. Ada Hamosh is the Dr. Frank V. Sutland Professor of Pediatric Genetics in the Departments of Genetic Medicine and Pediatrics. Since 2002, she has served as clinical director of the McKusick-Nathans Institute of Genetic Medicine, now Department of Genetic Medicine and scientific director of the Online Mendelian Inheritance in Man® (OMIM), a catalog of more than 16,800 human genes and genetic disorders created by Dr. Victor A. McKusick. Her research centers the molecular basis of Mendelian disorders, the integration of genetics into clinical practice and the diagnosis and management of inborn errors of metabolism. Dr. Hamosh earned a bachelor’s degree in biology from Wesleyan University, a medical degree from Georgetown University School of Medicine and a master’s of public health from Johns Hopkins University School of Public Health. She later completed a fellowship in medical and biochemical genetics from the Johns Hopkins School of Medicine, before joining the Johns Hopkins faculty in 1992. Dr. Hamosh began her genetics career focusing on cystic fibrosis, serving as coordinator of the International Cystic Fibrosis Genotype-Phenotype Consortium. She served as chair of the Maryland State Advisory Council for Hereditary & Congenital Disorders from 2001-2009, during which time she also served on the executive committee of the Genetic Counseling Training Program, run by Johns Hopkins University and the National Human Genome Research Institute. Dr. Hamosh has authored more than 128 publications on a variety of topics. In addition, she is a member of 16 professional associations and advisory committees including the American Society of Human Genetics, the Steering Committee of the Global Alliance for Genomics and Health, and the executive board of the Human Genome Organization, of which she will be President from 2023-2025. Dr. Hamosh was recognized in Baltimore magazine as one of the region’s top doctors in 2013, and 2016-2020. Dr. Hamosh is rated as an Experienced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. She is also highly rated in 28 other conditions, according to our data. Her clinical expertise encompasses Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation. Dr. Hamosh is board certified in American Board Of Medical Genetics And Genomics.

Richard Schroer is a Medical Genetics provider practicing medicine in Charleston, South Carolina. Dr. Schroer is rated as an Experienced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Chromosome 2p Duplication, Propionic Acidemia, Phenylketonuria (PKU), and Argininosuccinic Aciduria. Dr. Schroer is currently accepting new patients.

Raymond Wang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Wang is rated as an Experienced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.

Jesse Thoene is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Thoene 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 2 other conditions, according to our data. His clinical expertise encompasses Argininosuccinic Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Glycine Encephalopathy, and Inborn Amino Acid Metabolism Disorder. Dr. Thoene is board certified in Clinical Biochemical Genetics and Pediatrics.

Ayesha Ahmad is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Ahmad is rated as an Advanced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. She is also highly rated in 50 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Propionic Acidemia, Von Gierke Disease, and Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome). Dr. Ahmad is board certified in Clinical Biochemical Genetics and Clinical Genetics & Genomics.

Shane Quinonez is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Quinonez 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 129 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Dihydrolipoamide Dehydrogenase Deficiency, MELAS Syndrome, and Maple Syrup Urine Disease. Dr. Quinonez is board certified in Pediatrics, Clinical Biochemical Genetics, and Clinical Genetics & Genomics.

Angela Scheuerle is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Scheuerle is rated as an Experienced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. She is also highly rated in 170 other conditions, according to our data. Her clinical expertise encompasses Hennekam Syndrome, Fetal Akinesia Sequence, Hemihyperplasia, and Incontinentia Pigmenti.

Helio Pedro is a Pediatrics provider practicing medicine in Hackensack, New Jersey. Dr. Pedro is rated as an Experienced provider by MediFind in the treatment of 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Glycine Encephalopathy, Biotinidase Deficiency, Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia. Dr. Pedro is board certified in American Board Of Medical Genetics And Genomics.

David Sweetser is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Sweetser is rated as an Experienced provider 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 Hypotonia, Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, and Propionic Acidemia. Dr. Sweetser is board certified in Pediatrics, Clinical Biochemical Genetics, Pediatric Hematology-Oncology, and Clinical Genetics And Genomics.