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Kyle Welhouse
Kyle Welhouse

Public Documents 1
Hereditary Orotic Aciduria: an uncommon presentation in a pediatric patient
Kyle Welhouse
Mustafa Barbour

Kyle Welhouse

and 1 more

December 31, 2024
Hereditary orotic aciduria is an exceedingly rare autosomal recessive disorder and can result in significant and irreversible developmental delay if not treated promptly. Typically, this disease process presents with progressive lethargy, failure to thrive, and megaloblastic anemia. Most commonly presenting before one year of life. We report a case found in an 11-month-old child who presented with incidental neutropenia and normocytic anemia in an otherwise healthy child.

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