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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 …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… disease that mimics the same condition in patients with methylmalonic acidemia (MMA), a serious genomic disorder. Based on this … FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia "We found that having MMA, whether 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 …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… All times are in ET. Thursday, June 24 Scientific Session: Methylmalonic and Propionic Acidemias Time Topic Speaker … NHGRI 10:05 - 10:30 a.m. Genomic Therapies for Methylmalonic and Propionic Acidemia Charles P. Venditti, M.D., Ph.D. 10:30 - 11:00 a.m. …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… history and clinical phenotype(s) of the hereditary methylmalonic acidemias (MMA) and cobalamin metabolic … prove the efficacy of gene therapy as a treatment for both methylmalonic acidemia and propionic acidemia. In 2009, he was the …
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 …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… therapy as a treatment for rare genetic disorders, such as methylmalonic acidemia (MMA), propionic acidemia (PA), and Niemann-Pick … a growth advantage for corrected hepatocytes in mice with methylmalonic acidemia . Hepatology . 2021. Schneller JL, Lee …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… that medical foods, including those given to patients with methylmalonic acidemia (MMA), are not subject to the same scrutiny as … food into energy. In the first of these, known as isolated methylmalonic acidemia (MMA), mutations in any one of four …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… history protocol dedicated to the studies of propionic acidemia. This protocol-based study enabled novel insights … CP.  A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: Isolated methylmalonic acidemias (MMA). Genet Med 18(4):386-95, 2016. …