Accumulation of odd-numbered long-chain fatty acids in fetuses and neonates with inherited disorders of propionate metabolism.
Fetuses affected with propionic acidemia incorporate great amounts of odd-numbered long-chain fatty acids (OLCFA) into their body lipids. This is due to abundant supply with precursor amino acids of propionyl-CoA throughout pregnancy. After birth, the lower provision of precursor amino acids during dietary treatment compared with fetal life results in a decline of propionyl-CoA production and therefore OLCFA synthesis. However, the observed decrease of OLCFA may also partly reflect the recovery from acute ketoacidotic episodes that the patients experienced soon after birth as long as they were undiagnosed. In a patient with vitamin B12-responsive methylmalonic aciduria treated prenatally with large doses of vitamin B12 given to the mother, the cord plasma lipids contained normal amounts of OLCFA. This indicates that prenatal therapy led to an increased flux of propionyl-CoA through the defective methylmalonyl-CoA mutase step. Thus, in addition to the quantification of a decline in methylmalonic acid in maternal urine, OLCFA in cord blood lipids might be a further parameter for evaluating prenatal treatment in patients with vitamin B12-responsive methylmalonic aciduria.
Wendel
U
U
University Children's Hospital Düsseldorf, Germany.
Baumgartner
R
R
van der Meer
S B
SB
Spaapen
L J
LJ
D000214:Acyl Coenzyme A / Q000378:metabolism; D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D005333:Fetus / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000188:drug therapy / Q000378:metabolism*; D008764:Methylmalonic Acid / Q000378:metabolism; D011247:Pregnancy; D011422:Propionates / Q000378:metabolism*; D014805:Vitamin B 12 / Q000627:therapeutic use
D000214:Acyl Coenzyme A; D005227:Fatty Acids; D011422:Propionates; C009061:propionyl-coenzyme A; D008764:Methylmalonic Acid; D014805:Vitamin B 12