Abstract
Severe pancytopenia developed in two infants with isovaleric acidemia. Previous reports indicate these hematologic abnormalities are a leading cause of death in affected infants. Our findings suggest that the pancytopenia may be due to arrested maturation of hematopoietic precursors. Prompt transfusion of appropriate blood components prevented complications due to the hematologic abnormalities.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Metabolism, Inborn Errors / blood*
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Amino Acid Metabolism, Inborn Errors / complications*
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Bone Marrow Examination
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Female
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Hematopoietic Stem Cells / metabolism
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Hemiterpenes
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Humans
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Infant, Newborn
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Leucine / metabolism*
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Male
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Pancytopenia / etiology*
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Pentanoic Acids*
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Valerates / blood*
Substances
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Hemiterpenes
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Pentanoic Acids
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Valerates
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isovaleric acid
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Leucine