The 20 Best Dihydropteridine Reductase Deficiency Doctors in The United States
Find the Top Dihydropteridine Reductase Deficiency Experts and Specialists
ETSU Physicians & Associates- Pediatrics
. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.
St. Christopher's Pediatric Associates Genetics - E. Erie Avenue
. Dr. Perszyk is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Mucolipidosis 3. Dr. Perszyk is board certified in American Board Of Medical Genetics And Genomics.
St. Christopher's Pediatric Associates Genetics - E. Erie Avenue
. Dr. Narumanchi is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase 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.
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 Dihydropteridine Reductase 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.
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 Dihydropteridine Reductase 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.
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 Dihydropteridine Reductase 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.
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 Dihydropteridine Reductase 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.
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 Advanced provider by MediFind in the treatment of Dihydropteridine Reductase 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.
UT Southwestern - Internal Medicine Subspecialties
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 Dihydropteridine Reductase 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.
UC Davis Medical Center MIND Institute
Madelena Martin is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Sacramento, California. Dr. Martin is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Danon Disease, Pompe Disease, Phenylketonuria (PKU), and Fabry Disease. Dr. Martin is board certified in Medical Genetics And Genomics Clin Biochemical Genetic and Medical Genetics And Genomics Clin Genetics & Genomic. Dr. Martin is currently accepting new patients.
Emory Clinic At 1365 Clifton Road
Hong Li is a Medical Genetics provider practicing medicine in Atlanta, Georgia. She has been practicing medicine for over 32 years. Dr. Li is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, Maternal Hyperphenylalaninemia, and Beta-Ketothiolase Deficiency. Dr. Li is board certified in American Board Of Medical Genetics And Genomics, 2013.
UT Southwestern - Pediatric Genetics
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 Dihydropteridine Reductase 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).
Hackensack University Medical Center
Helio Pedro is a Pediatrics provider practicing medicine in Hackensack, New Jersey. Dr. Pedro is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase 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.
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 Experienced provider by MediFind in the treatment of Dihydropteridine Reductase 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.
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 Dihydropteridine Reductase 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.
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 Dihydropteridine Reductase 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.
Cleveland Clinic Main Campus
Rocio Moran is a Medical Genetics provider practicing medicine in Cleveland, Ohio. She has been practicing medicine for over 30 years. Dr. Moran is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Micrognathia, Amniotic Band Syndrome, and Multiple Pterygium Syndrome. Dr. Moran is board certified in American Board Of Medical Genetics And Genomics, 2005.
Rubenstein Child Health Building
Dr. Gerald Raymond is a clinical geneticist and neurologist at Johns Hopkins where he is also a professor of genetic medicine and neurology. He obtained his MD at the University of Connecticut and was trained in Pediatrics at Johns Hopkins Hospital and Neurology at the Mass. General Hospital. He received additional training in developmental neuropathology at the Universite Catholique de Louvain in Belgium and clinical genetics at the Harvard Program. Dr. Raymond’s research has been at the overlap of genetics and neurology with specific focus on peroxisomal disorders including adrenoleukodystrophy. He has been actively involved in newborn screening for ALD and in developing clinical follow-up programs. He has extensive experience in clinical management of neurogenetic issues including peroxisomal and lysosomal disorders. He presently serves as the Director of the Lysosomal Storage Disease program in the department of Genetic Medicine. Dr. Raymond is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Adrenoleukodystrophy (ALD), Metachromatic Leukodystrophy, Farber Lipogranulomatosis, and CACH Syndrome. Dr. Raymond is board certified in American Board Of Medical Genetics And Genomics and American Board Of Psychiatry And Neurology.
Greenwood Genetic Center– Charleston
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 Dihydropteridine Reductase 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.
Nemours Children's Hospital, Delaware
Nina Powell is a Medical Genetics provider practicing medicine in Wilmington, Delaware. She has been practicing medicine for over 30 years. Dr. Powell is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. She is also highly rated in 45 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, PIK3CA-Related Overgrowth Spectrum, Chromosome 13q Deletion, and Increased Head Circumference. Dr. Powell is board certified in American Board Of Medical Genetics And Genomics.
Last Updated: 04/28/2026







