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

Insights

Propionic acidemia (PA) is a serious inherited metabolic disorder. Early diagnosis and treatment allow affected girls to survive and have healthy pregnancies, as shown in this case study.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Propionic acidemia (PA) is a rare inherited metabolic disease with significant health implications.
  • Advances in early diagnosis and treatment have improved patient outcomes and survival rates.
  • More affected individuals, particularly females, are surviving to reproductive age.

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