article · BMC Pediatrics
Inborn errors of metabolism contribute significantly to illness and death in children, yet they are often overlooked in low-resource environments because they are rare and mimic common conditions like sepsis. A case report from Tanzania details a three-day-old infant who presented with lethargy, low body temperature, and respiratory distress, initially treated for suspected septic shock. Subsequent testing identified severe hyperammonemia, prompting treatment with peritoneal dialysis and oral sodium benzoate. Care involved a multidisciplinary team supported by teleconsultation with an international metabolic specialist. After initial stabilisation, the infant was transferred to a partner hospital in Pakistan, where genetic testing identified a homozygous pathogenic mutation in the N-acetylglutamate synthase gene. Although the infant died on day 49, the experience demonstrates that cross-border partnerships and high clinical suspicion can improve the management of rare metabolic disorders in resource-limited facilities.
Rare genetic conditions can be fatal if mistaken for common neonatal infections. This report highlights how healthcare facilities in resource-limited settings can leverage teleconsultation, local interventions, and international partnerships to identify and treat complex metabolic diseases, emphasising the need for improved local diagnostic tools and standard treatment protocols.
The abstract does not indicate an application pathway, as it is a clinical case report focused on medical management and diagnostic challenges.
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BACKGROUND: Inborn 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. CONCLUSION: 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.
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DOI: 10.1186/s12887-025-06449-z
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