Selective Screening of Inborn Errors of Metabolism Among Clinically Suspected Cases in Children Aged 1 to 18 Years at the Kenyatta National Hospital

Abstract

Background: Inborn Errors of metabolism comprises a group of disorders which are as a result of a disfunction in the metabolic pathway. Waters D et al estimated global birth prevalence of Inborn errors of metabolism is 50.9 per 100 000 live births while the estimated case fatality rate is 33% or higher(1). No study has been done in Kenya to determine the prevalence of inborn errors of metabolism in the Kenyan population. Study Justification and Utility: Despite the description of inborn errors of metabolism across the world, there remains no data available in the Kenyan population. This study sought to determine the prevalence of inborn errors of metabolism in a Kenyan hospital as well provide the clinical characteristics of the Kenyan children suffering from these conditions. Objectives: The main objective of this study was to determine the prevalence of inborn errors of metabolism among clinically suspected cases in children aged 1 to 18 years at the Kenyatta National Hospital. This study also determined the characteristics and the spectrum range of inborn errors of metabolism in children aged 1 to 18 years at the Kenyatta National Hospital. Study Design: This is an observational crossThis is an observational crossThis is an observational crossThis is an observational crossThis is an observational crossThis is an observational crossThis is an observational crossThis is an observational crossThis is an observational crossThis is an observational crossThis is an observational crossThis is an observational crossThis is an observational cross-sectional study.sectional study.sectional study.sectional study.sectional study.sectional study.sectional study. Methods: It was carried out at the four general paediatric wards and outpatient clinics at the Kenyatta National Hospital, a national referral teaching and research hospital located in Nairobi Kenya. The study population included children aged 0 months 18 years with inborn errors of metabolism at Kenyatta National hospital. Data collection was be carried out by the principal investigator and a research assistant using patient’s history, a short questionnaire and observation. Data management and analysis: Data collected by questionnaire was coded and analysed using R statistical software. Descriptive statistics included continuous variables e.g., mean with Standard deviation; Median with interquartile. Proportions were used to describe binary categorical variables. Quantitative data was presented in percentages and frequency tables Results: A high number of patients (22/78 (27%)) were confirmed with 9 different types of IEMs. The most presenting features were intellectual disability and abnormal 11 posture at 68.2% (n = 15) followed by those with hypotonia at 54.5% (n = 12). The least presenting features were visual impairment, ventricular dysfunction and cataracts among others 4.5% (n = 1). The majority of the patients 40.9% (n = 9) had Mucopolysaccharidosis type 2. The second most prevalent inborn error of metabolism was congenital adrenal hyperplasia 13.6% (n = 3). Conclusions: The creation of a national screening program for IEMs is essential for early discovery of these potentially treatable illnesses, timely and appropriately timed therapeutic intervention, and the avoidance of severe neurological sequelae.