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Persistent pulmonary hypertension of the newborn due to methylmalonic acidemia: a case report and review of the literature.

Fariba HemmatiHamide Barzegar
Published in: Journal of medical case reports (2023)
Persistent pulmonary hypertension of the newborn is a very rare manifestation of methylmalonic acidemia. Severe inborn errors of metabolism may cause irreversible damage with adverse lifelong morbidity, and early diagnosis may help to prevent such complications. Furthermore, diagnosis of these disorders aids in prenatal diagnosis through the use of cultured amniocytes or chorionic villi to detect gene mutations, as well as biochemical analyses of amniotic fluid for subsequent pregnancies.
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