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Juvenile-onset acid maltase deficiency with unusual familial features

Departments of Neurology and Pathology (Dr. Danon), University of Illinois College of Medicine, Chicago, IL; the Department of Neurology (Drs. DiMauro, Shanske, and Miranda), College of Physicians and Surgeons, Columbia University, New York, NY; and the Department of Pathology (Drs. Danon and Archer), Illinois Masonic Medical Center, Chicago, IL.

From early childhood, two brothers had mild gait difficulties due to acid maltase deficiency (AMD). Biochemical studies of family members were consistent with autosomal recessive inheritance, but the asymptomatic mother had AM activity in the homozygote range, and her parents had decreased AM activity. The asymptomatic mother may be homozygous for the adult-onset variant of AMD. Alternatively, either the mother or the children may be genetic compounds of the childhood and adult forms of AMD.

Address correspondence and reprint requests to Dr. Danon, Department of Neurology, University of Illinois, College of Medicine, 912 South Wood Street, Chicago, IL 60612.

Presented in part at the thirty-fifth annual meeting of the American Academy of Neurology, San Diego, CA, 1983.

Accepted for publication October 8, 1985.

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