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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.
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.
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