Late infantile acid maltase deficiency: a case report.
A five-year-old boy with late-infantile (juvenile) form of acid maltase deficiency is presented. His symptoms were restricted to skeletal muscle. There is commonly a correlation between the amount of residual acid maltase activity and the severity of the clinical picture. Although the residual enzyme level was very low in our patient, no progression of his neurological findings have been observed during the follow-up period of two years.
Calişkan
M
M
Department of Pediatrics, Istanbul University Istanbul Faculty of Medicine.
Yilmaz
Y
Y
Serdaroğlu
P
P
Aydinli
N
N
Ozmen
M
M
D017668:Age of Onset; D001706:Biopsy; D002675:Child, Preschool; D002874:Chromosome Mapping; D018740:Genetic Heterogeneity; D006009:Glycogen Storage Disease Type II / Q000145:classification* / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology