Search Results
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… Methylmalonic acidemia refers to a group of inherited disorders in which … to process certain proteins and fats (lipids) properly. … Methylmalonic acidemia (MMA) refers to a group of inherited disorders in …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with MMA and related … medical complications associated with them. … People with Methylmalonic Acidemia (MMA) and cobalamin disorders may …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver … browser does not support the video tag. Breath test for methylmalonic acidemia measures disease severity and success …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… to understand the pathophysiology of metabolic stress in methylmalonic acidemia (MMA). She studied the effects of dietary … a pharmacodynamic measure in upcoming clinical trials on methylmalonic and propionic acidemias. She is the lead …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Amino Acid Metabolism Clinical and Laboratory Study of Methylmalonic Acidemia Asthma New Approaches for Empowering Studies of … Errors of Metabolism Clinical and Laboratory Study of Methylmalonic Acidemia Inborn Errors of Metabolism Diagnosis …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… aciduria, argininemia Organic acidemias Propionic acidemia, methylmalonic aciduria, isovaleric acidemia, glutaric acidemia, maple syrup urine disease Fatty …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… genetics education Oleg Shchelochkov, M.D. Propionic acidemia Ellen Sidransky, M.D. Gaucher disease, Lysosomal … diseases program Charles Venditti, M.D., Ph.D. Hereditary methylmalonic acidemias and disorders of intracellular …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… due to Deficiency of CD-73 (ACDC), and for a new form of methylmalonic acidemia. However, NHGRI's clinical research endeavors extend …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… the gynecologic phenotype in Hermansky-Pudlak syndrome, Methylmalonic Acidemia/Cobalamin disorders/Propionic Acidemia, Chediak-Higashi syndrome and Smith-Lemli-Opitz …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… interested in a rare metabolic disorder called propionic acidemia, which affects one in 20,000 to 500,000 people worldwide. Patients with propionic acidemia have higher levels of a chemical called propionic … have discussed the possibility of two types of propionic acidemia — mild and severe — which could have an impact on …