Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
Glycogenosis type II (Pompe disease) is a lysosomal storage disease caused by deficiency of acid alpha-glucosidase (acid maltase). The disease is autosomal recessive inherited and is clinically and genetically heterogenous. The authors describe a 30-year-old woman affected by late-onset Pompe disease with vascular affection resembling atherosclerotic angiopathy of the elderly. Genetic analysis revealed two novel mutations (Ala237Val and Gly293Arg) in the acid alpha-glucosidase gene in this patient.
Anneser
J M H
JM
Department of Neurology and Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany. Johanna.Anneser@nro.med.uni-muenchen.de
Pongratz
D E
DE
Podskarbi
T
T
Shin
Y S
YS
Schoser
B G H
BG
D000328:Adult; D019943:Amino Acid Substitution; D002114:Calcinosis / Q000473:pathology; D002339:Carotid Arteries / Q000473:pathology; D002536:Cerebral Arteries / Q000473:pathology*; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency / Q000235:genetics*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D006261:Headache / Q000209:etiology; D006801:Humans; D002537:Intracranial Arteriosclerosis / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008881:Migraine Disorders / Q000175:diagnosis; D020125:Mutation, Missense; D010292:Paresthesia / Q000209:etiology; D010641:Phenotype; D017354:Point Mutation; D012307:Risk Factors; D000520:alpha-Glucosidases
D003062:Codon; D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase