Aldolase deficiency

B13. Beutler, E Scott, S., Bishop, A., Margolis, N Matsumoto, F., and Kuhl, W Red cell aldolase deficiency and hemolytic anemia A new syndrome. Trans. Assoc. Am. Physicians 76,154-166 (1973). 

M24. Miwa, S., Fujii, H., Tani, K Takahashi, K., Takegawa, S., Fujinami, N Sakurai, M., Kubo, M Tanimoto, Y., Kato, T., and Matsumoto, N., Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a Japanese family. Am. J. Hematol. II, 425-437 (1981). 

Muscle aldolase deficiency. The first patient with muscle aldolase deficiency was identified in 1996 this young boy suffered from a hemolytic trait but also... 

Genetic deficiency of fructokinase is benign and often detected incidentally when the urine is checked for glucose with a dipstick. Fructose 1-phosphate aldolase deficiency is a severe disease because of accumulation of fructose 1-phosphate in the liver and renal proximal tubules. Table 1-12-4 compares the two conditions. Symptoms are reversed after removing fructose and sucrose from the diet. 

Table 1-12-4. Comparison of Fructokinase and Fructose 1-Pho hate Aldolase Deficiencies...

D-4) Aldolase deficiency at this step. Associated with a hemolytic anemia and, sometimes, muscle weakness. 

Only three cases of aldolase deficiency have been described. Beutler et aF have described a boy with an unstable enzyme with mental retardation and hemolytic anemia and dysmorphic features. Kishi et al described a patient with severe hemolytic anemia, exacerbated by infection, but none of the features described by Beutler et al. Kishi identified the mutation, leading to a conversion of aspartic acid at position 128 to glycine. Kreuder et ai reported on a boy with hemolytic anemia and myopathy caused by aldolase A deficiency. They identified a mutation, causative of an amino acid substitution at position 206 (Glu to Lys). 

Beutler E, Scott S, Bishop A, Margolis N, Matsumoto F, Kuhl W. Red cell aldolase deficiency and hemolytic anemia a new syndrome. Trans Assoc Am Physicians 1973 86 154-66. 

Some enzymopathies of erythrocytes may be associated with multisystem disease (e.g., aldolase deficiency with mental and growth retardation). Individuals with 6-phosphofructokinase deficiency exhibit hemolysis and myopathy and have increased deposition of muscle glycogen (a glycogen storage disease see Chapter 15). The myopathy is usually characterized by muscle weakness and exercise intolerance. (See also Chapters 10, 15, and 28.)... 

Table 15.4. Hereditary fructose intolerance (fructose-1-phosphate aldolase deficiency) ...

S. M. Aronson, and S. M. Saieer Fructose-1-phosphate aldolase deficiency in Tay-Sachs disease. Amer. J. Med. 36, 481 (1964). 

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