Fatal Neonatal-onset Glutaric Acidemia Type IIc Masquerading as Neonatal Sepsis: A Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Source: Indian Pediatrics Case Reports
Authors: Aayushi Joshi, Shantanu Shubham, Naini Puri, Divya Mishra
Institution: Graphic Era University
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7105633513