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).
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