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A family with different clinical forms of acid maltase deficiency (glycogenosis type 11)

Biochemical and genetic studies

Department of Neurology (Drs. Loonen and Busch), Biochemistry I (Dr. Koster and Miss Slee), Cell Biology and Genetics (Dr. Niermeijer and Miss Mekes), and Pathology (Dr. Busch), Erasmus University, Rotterdam, The Netherlands; Laboratory of Biochemistry (Drs. Schram and Tager and Mrs. Brouwer-Kelder), University of Amsterdam, The Netherlands; and Horn-Bunge Foundation (Dr. Martin), University of Antwerp, Belgium.

In the same family, the generalized or infantile form of acid maltase deficiency (glycogenosis type 11, Pompe disease) and the muscular or adult-onset form affected different individuals. Autosomal-recessive inheritance for the two clinical forms was demonstrated in this family by assay of acid -glucosidase in muscle, lymphocytes, cultured fibroblasts, and urine of asymptomatic relatives. Current biochemical techniques do not discriminate between persons heterozygous for the generalized form and those heterozygous for the muscular form. To explain the coexistence of both forms in the same family, the infant with the generalized form or her grandfather with the muscular form must have been a genetic compound of different mutant alleles for acid -glucosidase.

Address correspondence and reprint requests to Dr. Loonen, Department of Neurology, Academic Hospital Rotterdam-Dijkzigt, 40 Dr. Molewaterplein, 3015 GD Rotterdam, The Netherlands.

Supported by the "Preventie Fonds" and the "Primes Beatrix Fonds" (The Netherlands).

Presented in part at the Fourth International Congress on Neuromuscular Diseases, Montreal, September 1978.

Accepted for publication March 11, 1981.

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