Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).
We describe the pregnancy of a patient of French-Canadian descent with multiple Acyl-CoA dehydrogenation deficiency (MADD). The proband was found to harbor a previously reported homozygous missense mutation on EFTDH gene (p.Pro534Leu:c.1601C>T) confirming the biochemical diagnosis of MADD. This mutation was not found in 50 controls from the same ethnic background. The clinical and molecular information of all patients with ETFDH mutations reported in the literature up-to-date are summarized.
Department of Medical Genetics, McGill University, Montreal, Canada.
Y
Y
Trakadis
D
D
Kadlubowska
R
R
Barnes
J
J
Mitchell
E
E
Spector
F
F
Frerman
S
S
Melancon
D044927:Electron-Transferring Flavoproteins / Q000235:genetics; D005260:Female; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000235:genetics; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000150:complications* / Q000201:enzymology; D009154:Mutation / Q000235:genetics; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000201:enzymology*; D055815:Young Adult
D044927:Electron-Transferring Flavoproteins; D007506:Iron-Sulfur Proteins; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase