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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 …
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 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 …
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 …
The Genomics Landscape
In the June 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. details the upcoming appointment of acting NHGRI Deputy Director, Vence Bonham Jr., J.D. and what it means for the institute.
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… . April 5, 2021: NIH scientists develop breath test for methylmalonic acidemia . May 17, 2021: NHGRI director appoints Vence Bonham …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… associated with mild and severe forms of propionic acidemia, a genetic condition that affects digestion of …