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Blood, 15 March 2004, Vol. 103, No. 6, pp. 2401-2403. Prepublished online as a Blood First Edition Paper on November 13, 2003; DOI 10.1182/blood-2003-09-3160. This Article Full Text (PDF) All Versions of this Article: 2003-09-3160v1 103/6/2401    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Yao, D. C Articles by Neufeld, E. J Search for Related Content PubMed PubMed Citation Articles by Yao, D. C Articles by Neufeld, E. J Related Collections Related Letter in Blood Online Social Bookmarking                   What's this? Submitted September 15, 2003 Accepted October 15, 2003 Hemolytic anemia and severe rhabdomyolysis due to compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase: ALDOA(Arg303X/Cys338Tyr) David C Yao, Dean R Tolan, Michael F Murray, David J Harris, Basil T Darras, Alon Geva, and Ellis J Neufeld* Division of Hematology, Children's Hospital and Dana Farber Cancer Institute, Boston, MA, USA; Harvard Medical School, Boston, MA, USA Department of Biology, Boston University, Boston, MA, USA Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA Department of Genetics Division, Children's Hospital, Boston, MA, USA Department of Neurology, Children's Hospital, Boston, MA, USA * Corresponding author; email: ellis.neufeld{at}childrens.harvard.edu. Aldolase [E.C. 4.1.2.13], a homotetrameric protein, encoded by the ALDOA gene, converts fructose-1,6-bisphosphate to dihydroxyacetone phosphate and glyceraldehyde-3-phosphate. Three isozymes are encoded by distinct genes. The sole aldolase present in red cells and skeletal muscle is the A isozyme. We report here the case of a female patient of Sicilian descent with aldolase A deficiency. Clinical manifestations included transfusion-dependent anemia until splenectomy at age three and increasing muscle weakness, with death at age four associated with rhabodomyolysis and hyperkalemia. Sequence analysis of the ALDOA coding regions revealed two novel heterozygous ALDOA mutations in conserved regions of the protein. The paternal allele encoded a nonsense mutation, Arg303X, in the enzyme active site. The maternal allele encoded a missense mutation, Cys338Tyr, predicted to cause enzyme instability. This is the most severely affected patient reported to date, and only the second with both rhabdomyolysis and hemolysis. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Letter in Blood Online: Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child Gabriella Esposito, Luigi Vitagliano, Armando Cevenini, Tiziana Amelio, Adriana Zagari, and Francesco Salvatore Blood 2005 105: 905-906. [Full Text] [PDF] This article has been cited by other articles: I. Kramerova, E. Kudryashova, B. Wu, C. Ottenheijm, H. Granzier, and M. J. Spencer Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle Hum. Mol. Genet., November 1, 2008; 17(21): 3271 - 3280. [Abstract] [Full Text] [PDF] R. van Wijk and W. W. van Solinge The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis Blood, December 15, 2005; 106(13): 4034 - 4042. [Abstract] [Full Text] [PDF] G. Esposito, L. Vitagliano, A. Cevenini, T. Amelio, A. Zagari, and F. Salvatore Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child Blood, January 15, 2005; 105(2): 905 - 906. [Full Text] [PDF]

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