Fructose-1,6-bisphosphatase deficiency initially diagnosed as acute necrotizing encephalopathy in a child: a case report

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12 Nov 2026 0 comments

CONCLUSIONS: Fructose-1,6-bisphosphatase deficiency can present beyond infancy and mimic necrotizing encephalopathy. Recognition of severe hypoglycemia, lactic acidosis, and multisystem abnormalities should prompt immediate metabolic stabilization and targeted genetic testing to avoid misdiagnosis and unnecessary immunomodulatory therapy.