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A Hypotonic Infant With Complete Deficiencies of Acid Maltase and Debrancher Enzyme

Department of Pediatrics, Ohio State University, and Children's Hospital, Columbus, OH

Carl P. Boesel, MD

Department of Pediatrics, Ohio State University, and Children's Hospital, Columbus, OH

Francis S. Wright, MD

Department of Pediatrics, Ohio State University, and Children's Hospital, Columbus, OH

Infantile acid maltase deficiency is an autosomal recessive disease that invariably leads to death in the first 2 years of life. Debrancher deficiency, also an autosomal recessive disease, however, carries a slowly progressive course. We report a hypotonic infant with a typical clinical course of infantile acid maltase deficiency in whom biochemical investigation revealed complete deficiencies of both acid maltase and debrancher enzyme. (J Child Neurol 1994;9:90-91).

Journal of Child Neurology, Vol. 9, No. 1, 90-91 (1994)
DOI: 10.1177/088307389400900122


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