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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.
… “Instead of looking at levels, we decided to measure metabolism itself.” Vast fluctuations in metabolic substances … of looking at levels, we decided to measure metabolism itself. One form of MMA is caused by mutations in … in the MMUT protein, which plays a pivotal part in metabolism. The protein is involved in the biological steps …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… docs to be researchers, too... The NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism … Mutations Reduce Protective Immunity … Related …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… similarities in how MMA and these disorders affect energy metabolism and, more specifically, the function of …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… glutaric aciduria type I) known as "inborn errors of metabolism" (IEM). Patients with IEM have an inherited … of a required protein (or proteins) needed to keep their metabolism churning properly. This absence can lead to a …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
… 2021, Dr. Rossignol has been teaching the Inborn Errors of Metabolism course offered by the Foundation for Advanced … Vaz FM, Ferreira CR. Inherited disorders of complex lipid metabolism: A clinical review . J Inherit Metab Dis . 2021 …
Staff
Antwi-Boasiako Oteng is a Research Fellow at the Center for Research on Genomics and Global Health.
… University, Netherlands, and a PhD in Molecular Nutrition, Metabolism and Genomics in 2019 from Wageningen University. … Kersten investigated the regulation of cellular lipid metabolism with a focus on trans fatty acids, as well as the …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… Dr. Hakonarson said. Genes that play a role in fat metabolism. Dr. Hakonarson also led a study that examined LOF variants in a gene, PCSK9 , which plays a role in fat metabolism. Those with LOF variants in this gene may have low …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.