Infantile and adult-onset acid maltase deficiency occurring in the same family.
A 16-week-old girl died from the infantile form of acid maltase deficiency (Pompe disease, acid alpha-glucosidase deficiency). Her paternal grandfather was well until the age of 53 years, when he started to suffer from the adult-onset form of the same enzyme deficiency. This observation suggests that the infantile and adult-onset forms of acid maltase deficiency are genetically related.
D000367:Age Factors; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D005959:Glucosidases / Q000172:deficiency*; D006008:Glycogen Storage Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged
D005959:Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase