Abstract
The prevalence of metabolic disorders in Nepal is yet unknown, although many case reports occur in literature. Heel-prick blood samples from newborns were collected on Dried Blood Spot (DBS) collection cards and tested through Tandem Mass Spectroscopy and fluorescence assays for disorders included in the Swiss neonatal screening program; two cases of hypothyroidism and one case of cystic fibrosis were identified. Thyroid stimulating hormone (TSH), immuoreactive trypsinogen (IRT), hydroxyprogesterone (OHP), tyrosine (Tyr), and octanoylcarnitine (C8) showed significant differences with gestation age. Most of the parameters were positively correlated with each other except galactose, galactose 1 phosphate uridyl transferase (GALT), and biotinidase. First and ninety-ninth percentiles in the Nepalese newborns were found to be different when compared with the Swiss newborns. Congenital hypothyroidism and cystic fibrosis are candidates to be considered for a newborn screening program in Nepal. Differences between the Nepalese and Swiss newborns in parametric values that change with gestation age can be attributed to a higher survival rate of pre-term babies in Switzerland. Others could be explained in part by early and exclusive breastfeeding in Nepalese newborns.
Highlights
Inborn Errors of Metabolism (IEMs) are increasingly recognized as representing examples of complex gene nutrient interactions leading to complex disease [1]
The national census of Nepal, 2011 [3], reports 125 castes and ethnic groups, of which 42% belong to the Aryans, 15.8% to Mongolians, 6.2% to Tharus, and 5.6% to Newars, among other minor groups which can be assumed to be of Aryan origin till more data becomes available
The proportion of children with low birth weight was lower than the reported UNICEF values of 18% for Nepal (UNICEF, 2009–2015) [25]
Summary
Inborn Errors of Metabolism (IEMs) are increasingly recognized as representing examples of complex gene nutrient interactions leading to complex disease [1]. The Tharus largely inhabit the southern terai belt and are reported to be the aboriginal population of Nepal, with the rest having migrated from South-West China and India. A strong example of this is seen in the alarmingly high incidence of hemoglobinopathies amongst the Tharu populations of the western terai region of Nepal. In a study on anemia in pregnant women, of the 2% of women of reproductive age that were found to have sickle cell trait, 94.7% belonged to the Tharu community [11] Another hospital based study identified sickle cell disease and thalassemias as the most commonly occurring hemoglobinopathy, with a majority of these (37.6%) affecting the Tharu community [12]. This genotype was found to be most often due to the deletion of 3.7 kb leading to a loss of one α globin gene with a frequency of 0.63 as compared to 0.05% among a population living in malaria free uplands [13]
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