Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation

J Pediatr Endocrinol Metab. 2016 Jul 1;29(7):863-6. doi: 10.1515/jpem-2015-0451.

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.

Publication types

  • Case Reports

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