Background Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often ...

Introduction: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare metabolic disease caused by biallelic variants in ACSF3 gene. The clinical phenotype is highly heterogeneous in this ...

Considering taking medication to treat hyperammonemia due to methylmalonic acidemia? Below is a list of common medications used to treat or reduce the symptoms of hyperammonemia due to ...

1 Department of Medical Genetics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada 2 Department of Human Genetics, McGill University, Montreal, Quebec, Canada 3 Department of ...

The existence of interallelic complementation within thecblA means that care must be taken in using complementation analysis to establish the diagnosis of patients referred for methylmalonic aciduria.

isovalemic acidemia; LCHADD, long chain 3-chydroxy-acyl-CoA dehydrogenase deficiency; MCADD, medium chain acyl-CoA dehydrogenase deficiency; MMA, methylmalonic acidemia; NAGS, N-acetylglutamate ...

Inherited disorders of mitochondrial metabolism, including isolated methylmalonic aciduria (MMAuria), present unique challenges to this homeostasis due to chronic loss of function of energetic ...

Methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs with the incidence of 1/3220, 1/4391, and 1/9659, respectively. The incidences of maple ...

The diagnosed condition was Methylmalonic Aciduria, a rare metabolic disorder caused by mutations in genes responsible for the enzymes methylmalonyl-CoA mutase and methylmalonyl-CoA epimerase, among ...

Differential diagnostic considerations for isolated bilateral pallidal lesions include carbon monoxide poisoning, methylmalonic acidemia, disulfiram toxicity and cocaine use disorder.

isovaleric acidemia; LCHADD, long chain 3-chydroxyacyl-CoA dehydrogenase deficiency; MSD, Maple syrup disease; MCADD, medium chain acyl-CoA dehydrogenase deficiency; MMA, methylmalonic acidemia ...