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A Neonatal BALB/c Mouse Model of Necrotizing Enterocolitis
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Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report
Yuli Zhang1,2, Longfei Chen3, Miao Duan1
1Department of Neonate, The Third Affiliated Hospital of Zunyi Medical University, The First People's Hospital of Zunyi, Zunyi, China.
Frontiers in Pediatrics
|February 18, 2025
Summary
Glutaric acidemia type II (GAII), a metabolic disorder, complicated a preterm infant with necrotizing enterocolitis (NEC). Early recognition of GAII is crucial, especially when infections are suspected but treatments fail.
Area of Science:
- Biochemistry
- Genetics
- Neonatology
Background:
- Glutaric acidemia type II (GAII) is an autosomal recessive metabolic disorder impacting fatty acid metabolism due to multiple acyl-CoA dehydrogenase deficiency.
- Necrotizing enterocolitis (NEC) is a severe gastrointestinal inflammatory disease primarily affecting premature infants.
Observation:
- A male preterm infant (30 weeks gestation) presented with symptoms of NEC, including abdominal distension and vomiting on the eighth day of life.
- Diagnostic imaging confirmed NEC, while subsequent metabolic derangements like acidosis, hyperlactacidemia, and hypoglycemia were noted.
- Tandem mass spectrometry confirmed the diagnosis of GAII.
Findings:
- This case highlights the co-occurrence of GAII and NEC in a preterm neonate.
- Metabolic crises in GAII can mimic or complicate common neonatal conditions like NEC.
- Delayed diagnosis of underlying genetic metabolic disorders can occur if not considered.
Implications:
- Clinicians should consider GAII in the differential diagnosis of neonates with NEC, particularly those with recurrent metabolic abnormalities.
- Prompt diagnosis and management of GAII are essential to prevent severe complications.
- Recognizing that genetic metabolic diseases can present similarly to infections is critical for accurate diagnosis and treatment in neonates.
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