Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report
Glutaric acidemia type II (GAII) is an autosomal recessive genetic metabolic disorder associated with mitochondrial dysfunction, characterized by multiple acyl-CoA dehydrogenase deficiency that affects fatty acid metabolism. Necrotizing enterocolitis (NEC) represents a severe inflammatory condition...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-02-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1392927/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832548285282254848 |
|---|---|
| author | Yuli Zhang Yuli Zhang Longfei Chen Miao Duan |
| author_facet | Yuli Zhang Yuli Zhang Longfei Chen Miao Duan |
| author_sort | Yuli Zhang |
| collection | DOAJ |
| description | Glutaric acidemia type II (GAII) is an autosomal recessive genetic metabolic disorder associated with mitochondrial dysfunction, characterized by multiple acyl-CoA dehydrogenase deficiency that affects fatty acid metabolism. Necrotizing enterocolitis (NEC) represents a severe inflammatory condition affecting premature neonates. This report describes a case involving a male preterm infant born at a gestation of 30 + 1 weeks who developed NEC complicated by GAII. On the eighth day of life, the patient exhibited abdominal distension and vomiting. Diagnostic imaging, including abdominal B-ultrasound and x-ray, revealed thickened bowel walls, multiple intestinal pneumatosis, and partial intestinal dilation, consistent with NEC. Subsequent recurrent episodes of acidosis, hyperlactacidemia, and hypoglycemia were observed. Diagnosis of GAII was confirmed through tandem mass spectrometry analysis of a blood sample. Genetic metabolic diseases may complicate or mimic common infections, leading to potential misdiagnosis. A differential diagnosis of GAII should be considered when active anti-infective treatments fail. |
| format | Article |
| id | doaj-art-a7f6a24c878a43fd9861fc428133f7a7 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-a7f6a24c878a43fd9861fc428133f7a72025-02-03T06:33:29ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-02-011310.3389/fped.2025.13929271392927Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case reportYuli Zhang0Yuli Zhang1Longfei Chen2Miao Duan3Department of Neonate, The Third Affiliated Hospital of Zunyi Medical University, The First People’s Hospital of Zunyi, Zunyi, ChinaDepartment of Neonatology, People’s Hospital of Xiuwen County, Guiyang, ChinaDepartment of Hepatobiliary, The Third Affiliated Hospital of Zunyi Medical University, The First People’s Hospital of Zunyi, Zunyi, ChinaDepartment of Neonate, The Third Affiliated Hospital of Zunyi Medical University, The First People’s Hospital of Zunyi, Zunyi, ChinaGlutaric acidemia type II (GAII) is an autosomal recessive genetic metabolic disorder associated with mitochondrial dysfunction, characterized by multiple acyl-CoA dehydrogenase deficiency that affects fatty acid metabolism. Necrotizing enterocolitis (NEC) represents a severe inflammatory condition affecting premature neonates. This report describes a case involving a male preterm infant born at a gestation of 30 + 1 weeks who developed NEC complicated by GAII. On the eighth day of life, the patient exhibited abdominal distension and vomiting. Diagnostic imaging, including abdominal B-ultrasound and x-ray, revealed thickened bowel walls, multiple intestinal pneumatosis, and partial intestinal dilation, consistent with NEC. Subsequent recurrent episodes of acidosis, hyperlactacidemia, and hypoglycemia were observed. Diagnosis of GAII was confirmed through tandem mass spectrometry analysis of a blood sample. Genetic metabolic diseases may complicate or mimic common infections, leading to potential misdiagnosis. A differential diagnosis of GAII should be considered when active anti-infective treatments fail.https://www.frontiersin.org/articles/10.3389/fped.2025.1392927/fullglutaricacidemia neonatalnecrotizing enterocolitispreterminfant |
| spellingShingle | Yuli Zhang Yuli Zhang Longfei Chen Miao Duan Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report Frontiers in Pediatrics glutaric acidemia neonatal necrotizing enterocolitis preterm infant |
| title | Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report |
| title_full | Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report |
| title_fullStr | Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report |
| title_full_unstemmed | Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report |
| title_short | Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report |
| title_sort | neonatal necrotizing enterocolitis complicated by glutaric acidemia type ii a case report |
| topic | glutaric acidemia neonatal necrotizing enterocolitis preterm infant |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1392927/full |
| work_keys_str_mv | AT yulizhang neonatalnecrotizingenterocolitiscomplicatedbyglutaricacidemiatypeiiacasereport AT yulizhang neonatalnecrotizingenterocolitiscomplicatedbyglutaricacidemiatypeiiacasereport AT longfeichen neonatalnecrotizingenterocolitiscomplicatedbyglutaricacidemiatypeiiacasereport AT miaoduan neonatalnecrotizingenterocolitiscomplicatedbyglutaricacidemiatypeiiacasereport |