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 …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… gene therapy for an inherited disease in children called methylmalonic acidemia, or MMA. For 10 years, NHGRI researchers have worked … help us move forward to develop safer gene therapy for methylmalonic acidemia," said Randy Chandler, Ph.D., 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 …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… reduced survival, growth retardation, and combined methylmalonic academia and hyperhomocysteinemia. Session #72: … (Acsf3 Deficiency) Displays Neurological Phenotype and Methylmalonic Acidemia. (Molecular Basis of Mendelian Disorders) 2957W. …
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 …
The Genomics Landscape
In the January 2019 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green honors NIAMS Director, Stephen Katz, M.D., Ph.D.
… Elevated Hormone Flags Liver Problems in Mice with Methylmalonic Acidemia Zooming in on Meiosis Accelerating Cures in the …
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 …