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A hypotonic infant with complete deficiencies of acid maltase and debrancher enzyme
C Y Tsao1, C P Boesel, F S Wright
1Department of Pediatrics, Ohio State University, Columbus.
Abstract:
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, carriers 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.
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