A large body of published work shows that proton (hydrogen 1 [1H]) magnetic resonance
(MR) spectroscopy has evolved from a research tool into a clinical neuroimaging modality …

Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism
characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency …

Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited
metabolic diseases. Six years ago, a detailed evaluation of the available evidence on …

Propionyl-CoA carboxylase (PCC) is the enzyme which catalyzes the carboxylation of
propionyl-CoA to methylmalonyl-CoA and is encoded by the genes PCCA and PCCB to form …

Management guidelines should identify necessary screening for patients with methylmalonic
acidemia and propionic acidemia, and improve anticipatory management of progressive end …

Propionic acidemia (PA) is a genetic metabolic disorder caused by mutations in the
mitochondrial enzyme, propionyl-CoA carboxylase (PCC), which is responsible for …

Background Isolated complex II deficiency is a rare form of mitochondrial disease,
accounting for approximately 2% of all respiratory chain deficiency diagnoses. The …

Background Organic acidemias, especially propionic acidemia (PA) and methylmalonic
acidemia (MMA), may manifest clinically within the first few hours to days of life. The classic …

Purpose To map brain metabolites and tissue magnetic susceptibility simultaneously using a
single three‐dimensional 1H‐MRSI acquisition without water suppression. Methods The …

Nutrition management guideline for propionic acidemia: An evidence- and consensus-based
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