Triosephosphate Isomerase Deficiency in a Child with Congenital Hemolytic Anemia and Severe Hypotonia

Robin E. Linarello Department of Pediatrics, LSU School of Medicine and Children's Hospital, New Orleans, Louisiana, USA

Avinash K. Shetty Department of Pediatrics, LSU School of Medicine and Children's Hospital, New Orleans, Louisiana, USA

Tal Thomas Department of Pediatrics, LSU School of Medicine and Children's Hospital, New Orleans, Louisiana, USA

P. Warrier Department of Pediatrics, LSU School of Medicine and Children's Hospital, New Orleans, Louisiana, USA

Abstract

A discussion of a 5-year-old child with congenital hemolytic anemia and severe hypotonia caused by triosephosphate (TPI) deficiency is presented. The complexities in the diagnosis and management of this condition is discussed and the relevant literature is reviewed.

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Triosephosphate Isomerase Deficiency in a Child with Congenital Hemolytic Anemia and Severe Hypotonia

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Triosephosphate Isomerase Deficiency in a Child with Congenital Hemolytic Anemia and Severe Hypotonia

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