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

backgroundInborn errors of metabolism represent a significant cause of childhood morbidity and mortality. These conditions are frequently missed in low-resource settings due to their anticipated rarity and similarity of symptoms to conditions such as sepsis. We present a case of a neonate with N-acetylglutamate synthase deficiency whose diagnosis and management at our facility were complicated by limited healthcare resources. CASE REPORT: A three-day-old male of South Asian origin born to consanguineous parents presented with lethargy, hypothermia and respiratory distress. He was initially managed for suspected septic shock. However, further investigations revealed severe hyperammonemia for which he was managed with peritoneal dialysis and oral sodium benzoate. His care was coordinated by a multidisciplinary team and included teleconsultation with a metabolic specialist. Once stabilized, he was transferred to our sister institution in Pakistan for further care where genetic analysis revealed a homozygous pathogenic variant (c.1306_1307insT; p.Thr439fs*52) in the N-acetylglutamate synthase gene, confirming the diagnosis of N-acetylglutamate synthase deficiency. However, the baby passed away at 49th day of life.

conclusionHigh 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.