Prevalence of Maple Syrup Urine Disease in Amirkola Children's Hospital, Iran (2002-2012)

Inborn errors of metabolism (IEM) are one of the differential diagnoses of neonates hospitalized with symptoms of neonatal sepsis. Maple syrup urine disease (MSUD) is a rare, autosomal recessive, inborn error of metabolism with high prevalence in populations with high inbreeding coefficient. In this study, the prevalence of this disease in newborns admitted to the Amirkola children’s hospital in Mazandaran province in 2002-2012 has been investigated. In this descriptive study, records of neonates admitted with nonspecific symptoms of IEM were studied. Patients with diagnosis of MSUD according to elevated levels of branched-chain amino acids in quantitative analysis of serum and/or urine amino acids were investigated for age, sex, consanguinity and location of parents, clinical signs, type of treatment and outcomes for hospitalization. From 3154 neonates admitted to this hospital in this time period, 16 cases were diagnosed as MSUD (0.5%). According to the total number of births in the province during the study period (427420 people), prevalence of MSUD was 1 in 26,714 births in the whole province. Double volume exchange transfusion done in addition to drug treatment for 69%of cases (11 cases) which led to disease control and patient discharge in 73% of cases (8 cases). The results of this study showed that maple syrup urine disease prevalence in the study area is high. Implementation of the screening program for MSUD in this area and prenatal tests for families of index cases are recommended.