Abstract
Although propionic acidemia (PA) is a devastating inherited metabolic disease, with early diagnosis and advanced treatment strategies prognosis gets better and girls can survive to child-bearing ages. We share the detailed follow-up data of the pregnancy, successful labor with cesarean section and a healthy baby of a Turkish patient with PA.
MeSH terms
-
Adult
-
Cesarean Section
-
Child Development
-
Diet, Vegetarian
-
Female
-
Homozygote
-
Humans
-
Infant, Low Birth Weight
-
Infant, Newborn
-
Lactation*
-
Methylmalonyl-CoA Decarboxylase / genetics*
-
Mutation*
-
Pregnancy
-
Pregnancy Complications / diet therapy
-
Pregnancy Complications / genetics*
-
Pregnancy Complications / physiopathology
-
Propionic Acidemia / diet therapy
-
Propionic Acidemia / genetics*
-
Propionic Acidemia / physiopathology
-
Term Birth
-
Turkey
Substances
-
Methylmalonyl-CoA Decarboxylase