Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId

Background: Glycogen storage disease type III (GSD III) is caused by mutations in AGL which encodes for a single protein with two enzyme activities: oligo-1, 4-1, 4-glucantransferase (transferase) and amylo-1, 6-glucosidase. Activity of both enzymes is lost in most patients with GSD III, but in the...

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Veröffentlicht in:	Clinical chemistry and laboratory medicine 2009-10, Vol.47 (10), p.1233-1238
Hauptverfasser:	Endo, Yoriko, Fateen, Ekram, El Shabrawy, Mortada, Aoyama, Yoshiko, Ebara, Tetsu, Murase, Toshio, Podskarbi, Teodor, Shin, Yoon S., Okubo, Minoru
Format:	Artikel
Sprache:	eng
Schlagworte:	African Continental Ancestry Group - genetics AGL Amino Acid Sequence Animals Base Sequence Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Case-Control Studies Child Child, Preschool Consensus Sequence DNA Mutational Analysis Egypt Errors of metabolism General aspects Glycogen Debranching Enzyme System - chemistry Glycogen Debranching Enzyme System - genetics Glycogen Debranching Enzyme System - metabolism glycogen storage disease type III Glycogen Storage Disease Type III - genetics Humans Investigative techniques, diagnostic techniques (general aspects) large deletion Male Medical sciences Metabolic diseases missense mutation Molecular Sequence Data Mutation, Missense Sequence Deletion transferase Transferases - metabolism
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