scholarly journals Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

2012 ◽  
pp. 19-26 ◽  
Author(s):  
Christiaan P Sentner ◽  
Yvonne J Vos ◽  
Klary N Niezen-Koning ◽  
Bart Mol ◽  
G Peter A. Smit
Keyword(s):  
The Netherlands ◽  
Glycogen Storage Disease ◽  
Mutation Analysis ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Novel Mutations ◽  
Type Iii ◽  
Novel Genotype

Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations

2016 ◽  
Vol 61 (7) ◽  
pp. 641-645 ◽  
Author(s):  
Chaoxia Lu ◽  
Zhengqing Qiu ◽  
Miao Sun ◽  
Wei Wang ◽  
Min Wei ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Chinese Patients ◽  
Novel Mutations ◽  
Type Iii

scholarly journals A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III

2013 ◽  
Vol 59 (1) ◽  
pp. 42-45 ◽  
Author(s):  
Jae Sung Ko ◽  
Jin Soo Moon ◽  
Jeong Kee Seo ◽  
Hye Ran Yang ◽  
Ju Young Chang ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Mutation Analysis ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Korean Patients ◽  
Type Iii

Hepatic Manifestations in Glycogen Storage Disease Type III

2018 ◽  
Vol 6 (4) ◽  
pp. 233-240
Author(s):  
Aditi Korlimarla ◽  
Stephanie Austin ◽  
Baodong Sun ◽  
Priya Kishnani
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iii

Glycogen Storage Disease Type III with Hypoketosis

2010 ◽  
Vol 23 (8) ◽  
Author(s):  
María Clemente ◽  
Miquel Gussinyer ◽  
José Antonio Arranz ◽  
Encarnació Riudor ◽  
Diego Yeste ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iii

The effect of tailoring of cornstarch intake on stature in children with glycogen storage disease type III

2015 ◽  
Vol 28 (1-2) ◽  
Author(s):  
Hanaa El-Karaksy ◽  
Mona S. El-Raziky ◽  
Ghada Anwar ◽  
Engy Mogahed
Keyword(s):  
Glycogen Storage Disease ◽  
Growth Velocity ◽  
Linear Growth ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iii ◽  
Fasting Tolerance

AbstractTo determine the individual fasting tolerance for patients with glycogen storage disease type III (GSD III) and to assess their linear growth velocity after tailoring of dose intervals of oral uncooked cornstarch.A prospective cohort study included 32 patients with GSD III aged 6 months–11.5 years (median: 3.3 years). The fasting tolerance of each patient was determined as the time interval between starch administration until the drop in blood glucose level was below 60 mg/dL.Some 27 patients (84.4%) developed hypoglycemia. The intervals between oral cornstarch administration were tailored for each child according to his/her individual fasting tolerance. After a 6-month follow up there was a significant reduction in seizure attacks (p<0.01) and liver size (p<0.01), but there was no statistically significant difference in liver transaminase and serum lactate levels. There was a significant improvement in height (p<0.01) and linear growth velocity (p<0.05) of these patients after at least a 12-month follow up.: Adjusting the intervals between the cornstarch doses for each patient with GSD III, according to individual fasting tolerance test was very beneficial and resulted in improvement of the linear growth velocity and reduction in the frequency of hypoglycemic seizures as well as the size of the liver. Individual scheduling of cornstarch doses prevents complications in those who develop hypoglycemia at short intervals; it also allows some relaxation in schedule for those who can tolerate longer fasting hours to improve their appetite and prolong their uninterrupted sleep hours.

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