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 … to process certain proteins and fats (lipids) properly. … Methylmalonic acidemia (MMA) refers to a group of inherited … called methymalonyl-coenzyme A. The result is a buildup of methylmalonic acid in the body. Vitamin B12 deficiency states …
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. … FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia "We found that having MMA, whether in … Elevated hormone flags liver problems in mice with methylmalonic acidemia (MMA) … Researchers have discovered …
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 … medical complications associated with them. … People with Methylmalonic Acidemia (MMA) and cobalamin disorders may … as needed. A 24-hour urine collection to examine for methylmalonic acid, other acids, sugar and proteins to …
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 … browser does not support the video tag. Breath test for methylmalonic acidemia measures disease severity and success … … Related Content … NIH scientists develop breath test for methylmalonic acidemia … NIH researchers have developed a …
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 10:00 - 10:05 a.m. Introduction … NHGRI 10:05 - 10:30 a.m. Genomic Therapies for Methylmalonic and Propionic Acidemia Charles P. Venditti, …