Blood. 2004 Mar 15;103(6):2401-3. Epub 2003 Nov 13.

Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr).

Yao DC, Tolan DR, Murray MF, Harris DJ, Darras BT, Geva A, Neufeld EJ.

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Division of Genetics, Department of Neurology, Children's Hospital Boston, Dana Farber Cancer Institute and Harvard Medical School, MA 02115, USA.

Abstract

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 blood cells and skeletal muscle is the A isozyme. We report here the case of a girl of Sicilian descent with aldolase A deficiency. Clinical manifestations included transfusion-dependent anemia until splenectomy at age 3 and increasing muscle weakness, with death at age 4 associated with rhabdomyolysis and hyperkalemia. Sequence analysis of the ALDOA coding regions revealed 2 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.

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Blood. 2005 Jan 15;105(2):905-6.

PMID:: 14615364; [PubMed - indexed for MEDLINE]

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Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. [Proc Natl Acad Sci U S A. 1987]
Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation.
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