A hypotonic infant with complete deficiencies of acid maltase and debrancher enzyme.
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.
Tsao
C Y
CY
Department of Pediatrics, Ohio State University, Columbus.
Boesel
C P
CP
Wright
F S
FS
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004576:Electromyography; D017809:Fatal Outcome; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency* / Q000235:genetics; D006010:Glycogen Storage Disease Type III / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics
D005087:Glucan 1,4-alpha-Glucosidase