METHYLMALONIC ACID

[摘要] Methylmalonate studies have led to some understanding of vitamin B12 metabolism as well as certain inborn errors of metabolism. These, in turn, have served as models of a group of diseases related to acidosis, so that the study of organic aciduria at present is similar to that of amino aciduria 20 years ago. Techniques for studying these have been developed.Many unanswered questions remain.(1) What does methylmalonate do? Does it, itself, cause the acidosis? Does it cause a deficiency of succinate in the oxidative cycle?(2) Are more direct ways of increasing succinate available?(3) What is the relation of methylmalonate to combined system disease or vitamin B12 neuropathy?(4) Are enzymes defective or absent?(5) What is the significance of methylmalonate in the newborn?(6) How does one counsel or treat families which include members with methylmalonic aciduria?

[学科分类] 儿科学