Author/Authors :
ABBASI, Ezatolah Pediatric Neurologist - Urmia University of Medical Sciences - Urmia, Iran , GHAZAVI, Ahad Pediatric Neurologist - Urmia University of Medical Sciences - Urmia, Iran , HASSANVAND AMOUZADEH, Masoud Neuroscience Research Center - Qom University of Medical Sciences - Qom, Iran , VALIZADEH, Mohammad Pediatrician - Urmia University of Medical Sciences - Urmia, Iran , AKHAVAN SEPAHI, Mohsen Department of Pediatric Nephrology - Qom University of Medical Sciences - Qom, Iran
Abstract :
Medium-chain acyl-coA dehydrogenase deficiency (MCADD) is
an autosomal recessive disorder of fatty acid β- oxidation, which
is inherited in an autosomal recessive manner. The enzyme plays a
role in hepatic Ketogenesis, which is a significant source of energy
during prolonged fasting. There is no metabolic screening program
except for phenylketonuria (PKU) and hypothyroidism in Iran, and
such screening is exclusively implemented in the case of babies with
unprovoked seizures and hypoglycemia and previous unexplained
sibling deaths. In this paper, we report a case of a seven-year-old boy
who presented with afebrile serial seizures leading to coma and death.
in this regard, metabolic screening tests were used to determine the
exact cause of encephalopathy and the final diagnosis.
