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Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated
Shanshan Xue1,2, Wujuan Shi1,2, Xiaobo He1,2
1Department of Neonatology, Tianjin Children's Hospital, Tianjin, China.
Frontiers in Immunology
|March 23, 2026
Summary
This study reports a rare case of early-onset mevalonic aciduria (MA) in a neonate, identified by a novel MVK gene mutation. Prompt diagnosis is crucial for distinguishing MA from infections and autoinflammatory disorders.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Mevalonic aciduria (MA) is a rare metabolic disorder.
- Early diagnosis in neonates is critical for management.
- Distinguishing MA from infectious and autoinflammatory conditions is challenging.
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