Fatal Neonatal-onset Glutaric Acidemia Type IIc Masquerading as Neonatal Sepsis: A Case Report

Background: Glutaric acidemia type II (GA-II) is a rare neonatal metabolic disorder that presents with nonspecific features, often posing a diagnostic challenge. Clinical Description: A late preterm neonate, born out of nonconsanguineous marriage, with an uneventful antenatal course, developed respiratory distress few hours after birth. He was lethargic, cyanosed with hypotonia, having normal anthropometric parameters. Management and Outcome: Investigations revealed negative septic screen, persistent nonketotic hypoglycemia despite increasing glucose-infusion rate, metabolic acidosis, increased lactate, and hyperammonemia with normal chest X-ray and ultrasound cranium. Blood acylcarnitines and urine organic acids were inconclusive. Whole-exome sequencing confirmed a homozygous c.1414G > A (p.Gly472Arg) variant in exon 11 of electron transfer flavoproteins dehydrogenase (ETFDH) gene, consistent with GA-IIc. Supportive care including mechanical ventilation with inotropic support, glucose infusion, and peritoneal dialysis for refractory hyperammonemia were provided. However, infant succumbed to multiorgan failure on day 5 of life. Conclusion: This case emphasizes the importance of early recognition of metabolic disorders in neonates with unexplained metabolic decompensation. Timely empirical therapy and integration of genetic testing are critical for management, prognostication, and family counseling.