Methylmalonic acidemia
Copyright policy )Methylmalonic acidemia
A patient presenting with severe metabolic acidosis accompanied by hyperglycinemia, hyperuricemia, hypoglycemia and hypertammonemia is described. Metabolic acidosis was found to be due to accumulated methylmalonic acid and did not respond to vitamin B12 administration. The patient showed favorable growth and development when kept on a low isoleucine, methionine, threonine and valine diet. In vitro studies using a lymphoid cell line derived from the patient showed a deficiency of methylmalonyl-CoA carbonyl-mutase.
- Hokkaido Bunkyo University Japan
- Kumamoto University Japan
Glycine, Infant, Methylmalonyl-CoA Mutase, Hypoglycemia, Malonates, Uric Acid, Ammonia, Humans, Female, Acidosis, Isomerases, Amino Acid Metabolism, Inborn Errors, Methylmalonic Acid
Glycine, Infant, Methylmalonyl-CoA Mutase, Hypoglycemia, Malonates, Uric Acid, Ammonia, Humans, Female, Acidosis, Isomerases, Amino Acid Metabolism, Inborn Errors, Methylmalonic Acid
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).9 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!