The 20 Best Pyruvate Decarboxylase Deficiency Doctors in The United States
Find the Top Pyruvate Decarboxylase Deficiency Experts and Specialists
Nicola Brunetti-Pierri is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Brunetti-Pierri is rated as an Elite provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. He is also highly rated in 40 other conditions, according to our data. His clinical expertise encompasses Pyruvate Decarboxylase Deficiency, Crigler-Najjar Syndrome, Argininosuccinic Aciduria, and Rotor Syndrome.
Jirair Bedoyan is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Pittsburgh, Pennsylvania. Dr. Bedoyan is rated as an Elite provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Pyruvate Dehydrogenase Deficiency, Pyruvate Decarboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, Urea Cycle Disorders (UCD), and Gastrostomy. Dr. Bedoyan is currently accepting new patients.
University Hospitals Medical Group Inc
Suzanne Debrosse is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Cleveland, Ohio. Dr. Debrosse is rated as an Elite provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. She is also highly rated in 88 other conditions, according to our data. Her clinical expertise encompasses Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Pyruvate Carboxylase Deficiency. Dr. Debrosse is currently accepting new patients.
Raymond Wang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Wang is rated as an Advanced provider by MediFind in the treatment of Pyruvate Decarboxylase 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.
Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE
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 Advanced provider by MediFind in the treatment of Pyruvate Decarboxylase 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.
State University Of Iowa
Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Iowa City, Iowa. Dr. Calhoun is rated as an Experienced provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, and Costello Syndrome. Dr. Calhoun is currently accepting new patients.
Mari Mori is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Atlanta, Georgia. Dr. Mori is rated as an Experienced provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Von Gierke Disease, and Ornithine Transcarbamylase Deficiency. Dr. Mori is currently accepting new patients.
St. Christopher's Pediatric Associates Genetics - E. Erie Avenue
. Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics.
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 Pyruvate Decarboxylase 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.
Jose Abdenur is a Medical Genetics provider practicing medicine in Orange, California. Dr. Abdenur is rated as an Advanced provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Von Gierke Disease, Glycogen Storage Disease Type 3, Malonyl-CoA Decarboxylase Deficiency, and Hyperlysinemia. Dr. Abdenur is currently accepting new patients.
Cristel Chapel is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chapel is rated as an Advanced provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses CLN4 Disease, CLN2 Disease, CLN3 Disease, and CLN5 Disease. Dr. Chapel is currently accepting new patients.
Children's Hospital Pediatric Associates, Inc
Amy Kritzer is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Kritzer is rated as an Advanced provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. She is also highly rated in 33 other conditions, according to our data. Her clinical expertise encompasses Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Kritzer is board certified in Pediatrics, Medical Biochemical Genetics, and Clinical Genetics And Genomics.
Rubenstein Child Health Building
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 Pyruvate Decarboxylase 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.
Atrium Health Levine Children's Genetics
Edwin Ferren is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Charlotte, North Carolina. Dr. Ferren is rated as an Experienced provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. His clinical expertise encompasses Fabry Disease, Multiple Sulfatase Deficiency, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Pyruvate Decarboxylase Deficiency, and Gastrostomy. Dr. Ferren is board certified in American Board Of Medical Genetics. Dr. Ferren is currently accepting new patients.
C. S. Mott Children's Hospital
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 Pyruvate Decarboxylase 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.
C. S. Mott Children's Hospital
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 Pyruvate Decarboxylase 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.
UT Southwestern - Pediatric Genetics
Laura Mackay is a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Mackay is rated as an Experienced provider by MediFind in the treatment of Pyruvate Decarboxylase 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).
UT Southwestern - Pediatrics
Luis Umana is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Umana is rated as an Experienced provider by MediFind in the treatment of Pyruvate Decarboxylase 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.
Nationwide Children's Hospital Toledo-Genetics
Kandamurugu Manickam is a Medical Genetics provider practicing medicine in Toledo, Ohio. Dr. Manickam is rated as an Experienced provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Chromosome 6q Deletion, Vici Syndrome, Neurofibromatosis Type 1 (NF1), and Miller-Dieker Syndrome. Dr. Manickam is board certified in American Board Of Internal Medicine and American Board Of Medical Genetics & Genomics. Dr. Manickam is currently accepting new patients.
Changrui Xiao is a Medical Genetics provider practicing medicine in Orange, California. Dr. Xiao is rated as an Experienced provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Glutaric Acidemia Type 2, Retinopathy Pigmentary Mental Retardation, Adrenoleukodystrophy (ALD), and X-Linked Creatine Deficiency. Dr. Xiao is currently accepting new patients.
Last Updated: 04/28/2026





