Urea Cycle Disorders (UCD)Symptoms, Doctors, Treatments, Advances & More
Learn About Urea Cycle Disorders (UCD)
Common conditions include: Arginase Deficiency, Argininosuccinic Aciduria, Carbamoyl Phosphate Synthetase 1 Deficiency, Citrullinemia
Rare Disease Institute
Nicholas Ah Mew, MD, is director of the Inherited Metabolic Disorders Program at Children’s National Hospital and is associate professor of Pediatrics at The George Washington University. He is a clinical geneticist and clinical biochemical geneticist whose primary research interests include urea cycle disorders, organic acidemias, and other disorders of ammonia metabolism. He is the principal investigator or co-PI of several projects funded through the National Institutes of Health and Patient-Centered Outcomes Research Institute. Dr. Ah Mew is the Children’s National site-PI and an active member of the NIH-funded Urea Cycle Disorders Consortium (UCDC). He has authored multiple publications and book chapters on hyperammonemia and urea cycle disorders and has lectured internationally on these topics. Dr. Mew is rated as an Elite provider by MediFind in the treatment of Urea Cycle Disorders (UCD). He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Maple Syrup Urine Disease, Argininosuccinic Aciduria, and Propionic Acidemia. Dr. Mew is board certified in American Board Of Medical Genetics And Genomics, 2020 and Clinical Biochemical Genetics: American Board Of Medical Genetics And Genomics, 2011.
M Health Fairview Metabolic Disorders Clinic Minneapolis
Susan Berry is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Berry is rated as an Elite provider by MediFind in the treatment of Urea Cycle Disorders (UCD). She is also highly rated in 23 other conditions, according to our data. Her clinical expertise encompasses Urea Cycle Disorders (UCD), Propionic Acidemia, Argininosuccinic Aciduria, and Inborn Amino Acid Metabolism Disorder. Dr. Berry is board certified in Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1984 and Pediatrics: American Board Of Pediatrics, 1983. Dr. Berry is currently accepting new patients.
Mureo Kasahara is a Transplant Surgeon practicing medicine in Tokyo, Japan. Kasahara is rated as an Elite expert by MediFind in the treatment of Urea Cycle Disorders (UCD). They are also highly rated in 11 other conditions, according to our data. Their clinical expertise encompasses Biliary Atresia, Urea Cycle Disorders (UCD), Liver Failure, Liver Transplant, and Hepatectomy.
Summary: The goal of this observational study is to learn if people with certain ammonia metabolism disorders will measure their ammonia levels at home. The main question it aims to answer is: • Will participants measure their ammonia every day? Participants will be asked to: * Attend two in-person study visits at the clinic. * Measure temperature, heart rate, and blood oxygen every day. * Complete a short...
Summary: Arginase 1 deficiency (ARG1-D) is a rare condition in which the body cannot properly break down a substance called arginine. This leads to high levels of arginine and related substances in the blood, which can cause serious health problems and reduce quality of life. Loargys is a new treatment designed to lower arginine levels in people with ARG1-D. It works by providing a modified version of a na...