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

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

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

The final unique stage in the metabolism of L-isoleucine involves the cleavage of 2-
methylacetoacetyl-CoA to acetyl-CoA and propionyl-CoA (Section 10.4). The propionyl-CoA …

Conclusions HBV RNA showed distinct and corresponding profiles in patients with HBV in
different disease phases. HBV RNA and HBcrAg could be used to monitor residual …

Recent advances in the diagnosis and treatment of inborn errors of metabolism have
improved substantially the prognosis for many of these conditions. This makes it essential …

Over the last decades, advances in clinical care for patients suffering from propionic
acidemia (PA) and isolated methylmalonic acidemia (MMA) have resulted in improved …

Derivatives of cobalamin (vitamin B12) are required for activity of two enzymes in humans.
Adenosylcobalamin is required for activity of mitochondrial methylmalonylCoA mutase and …

Decades of intense research in molecular biology and biochemistry are fructifying in the
emergence of therapeutic messenger RNAs (mRNA) as a new class of drugs. Synthetic …

Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are
known based on biochemical, enzymatic and genetic complementation analysis. The mut0 …