Metabolic mysteries: Recurrent miscarriage and congenital anomalies

Dr Malak Alghamdi unravels the mystery of a 32-year-old woman with a history of recurrent miscarriage and early neonatal death with congenital anomalies. Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman Malak Ali Alghamdi, et al https://doi.org/10.1002/jmd2.12384