Juvenile-onset acid maltase deficiency with unusual familial features.
From early childhood, two brothers had mild gait difficulties due to acid maltase deficiency (AMD). Biochemical studies of family members were consistent with autosomal recessive inheritance, but the asymptomatic mother had AM activity in the homozygote range, and her parents had decreased AM activity. The asymptomatic mother may be homozygous for the adult-onset variant of AMD. Alternatively, either the mother or the children may be genetic compounds of the childhood and adult forms of AMD.
D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000378:metabolism*; D005959:Glucosidases / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000201:enzymology
D005959:Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase