Common Organic Acidemias in a Tertiary Hospital in Egypt

Abstract Background Organic acidemias (OAs) are a heritable group of heterogeneous metabolic disorders characterized by the accumulation of organic acids in body fluids and tissues. They are rare disorders and infrequently reported worldwide. Methylmalonic acidemia (MMA), propionic acidemia (PA), isovaleric acidemia (IVA), 3-methylglutaconic aciduria (3-MGA), and glutaric acidemia type 1(GA1), are considered the more common OAs, their prevalence is higher in Arab populations due to the high consanguinity rate. Aim This study aimed to: • Evaluate the spectrum of common organic acidemias among pediatric patients who followed up at the metabolic clinic of a tertiary hospital in Egypt. • Present different clinical and biochemical characterizations and the time of onset of these disorders, so that helps in raising the high index of suspicion among pediatricians and health care practitioners to make an early diagnosis. Method We conducted a descriptive retrospective study by reviewing the medical records of pediatric aged group patients diagnosed with common forms of OAs, followed up in Metabolic Clinic, Ain Shams University Hospitals, Egypt, over a 4-year period, between January 2017 and January 2021. All patients were investigated by metabolic work up, including the acylcarnitine profile and urinary organic acid analysis. Results A total of 76 patients with common OAs were included in the study. There were (56.6%) males and (43.4%) females. Most patients presented after the first year of life (58.7%); whereas the median age at diagnosis was 15 months. GA-1 was the most frequent disorder (39.5%), followed by MMA (36.8%). There were relatively high rates of consanguinity (80%) and affected siblings (23%). The most frequent presenting symptoms were developmental delay (69.3%), poor feeding (65.7%), and vomiting (50.7%). The main observed complications among studied patients were delayed motor development (67.1%), delayed speech (22.4%) and faltering growth (15.8%). Regarding the disease course and patientś outcome; 55.3% of patients exhibited regressive course, whereas 84.2% of patients were alive and well. Conclusion GA-1 is the commonest organic acidemias in Egypt and is more evident due to high rate of consanguinity. This urges the need to enhance awareness among pediatricians, primary healthcare providers and devise a governmental newborn screening program for the early detection and prevention of such disorders.