Diagnostic and management challenges of a case of N-acetylglutamate synthase deficiency in a resource-limited healthcare setting in Tanzania: a case report

High index of suspicion is important in diagnosing inborn errors of metabolism. Even in resource-limited setting, a multidisciplinary team with international partnership can optimize the care for patients with rare inborn errors of metabolism. There is also a need to increase awareness, improve diagnostic capacity and establish standardized treatment protocols for rare metabolic disorders in low-resource settings like Tanzania.