Document Detail

Isovaleric acidemia with promyelocytic myeloproliferative syndrome.
MedLine Citation:
PMID:  10191353     Owner:  NLM     Status:  MEDLINE    
Isovaleric acidemia, an autosomal recessive disorder, is due to isovaleryl-coenzyme A dehydrogenase deficiency and is one of the branched-chain aminoacidopathies. Isovaleric acidemia may present in the neonatal period with an acute episode of severe metabolic acidosis, ketosis, and vomiting and may lead to coma and death in the first 2 months of life. This report concerns an infant who presented at 10 days of age because of lethargy, poor feeding, hypothermia, cholestasis, and thrombocytopenia, leukopenia, and profound pancytopenia. Death occurred at 19 days of age. Autopsy showed mild fatty change in the liver and extramedullary hematopoiesis, generalized Escherichia coli sepsis, and myelodysplasia of the bone marrow with arrest of the myeloid series at the promyelocytic stage. The appearance resembled promyelocytic leukemia, but the diagnostic 15:17 translocation was not present. The maturation arrest in granulopoiesis in isovaleric acidemia appears to be most likely due to a direct metabolic effect on granulocyte precursor cells.
E Gilbert-Barness; L A Barness
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  2     ISSN:  1093-5266     ISO Abbreviation:  Pediatr. Dev. Pathol.     Publication Date:    1999 May-Jun
Date Detail:
Created Date:  1999-05-06     Completed Date:  1999-05-06     Revised Date:  2006-05-08    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  286-91     Citation Subset:  IM    
Department of Pathology, Tampa General Hospital, P.O. Box 1289, Tampa, FL 33601-1289, USA.
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / blood,  complications,  pathology*
Bone Marrow / pathology
Fatal Outcome
In Situ Hybridization, Fluorescence
Infant, Newborn
Leukemia, Promyelocytic, Acute / blood,  complications,  pathology*
Pancytopenia / pathology
Pentanoic Acids* / blood
Reg. No./Substance:
0/Pentanoic Acids; 503-74-2/isovaleric acid

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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