Abstract | INTRODUCTION:
Glycogen storage disease Type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen debranching enzyme, encoded by the AGL gene. Two clinical types of the disease are most prevalent: GSD IIIa involves the liver and muscle, whereas IIIb affects only the liver. The classical dietetic management of GSD IIIa involves prevention of fasting, frequent feeds with high complex carbohydrates in small children, and a low-carb- high-protein diet in older children and adults. Recently, diets containing high amount of fat, including ketogenic and modified Atkins diet (MAD), have been suggested to have favorable outcome in GSD IIIa. METHODS: RESULTS: In all patients, transaminase levels dropped in response to MAD. Decrease in CK levels were detected in 5 out of 6 patients. Hypoglycemia was evident in 2 patients but was resolved by adding uncooked cornstarch to diet. CONCLUSION: Our study demonstrates that GSD IIIa may benefit from MAD both clinically and biochemically.
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Authors | Asburce Olgac, Aslı İnci, İlyas Okur, Gürsel Biberoğlu, Deniz Oğuz, Fatih Süheyl Ezgü, Çiğdem Seher Kasapkara, Emine Aktaş, Leyla Tümer |
Journal | Annals of nutrition & metabolism
(Ann Nutr Metab)
Vol. 76
Issue 4
Pg. 233-241
( 2020)
ISSN: 1421-9697 [Electronic] Switzerland |
PMID | 32712609
(Publication Type: Evaluation Study, Journal Article)
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Copyright | © 2020 S. Karger AG, Basel. |
Chemical References |
- Blood Glucose
- Transaminases
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Topics |
- Adolescent
- Adult
- Blood Glucose
(analysis)
- Child
- Child, Preschool
- Diet, High-Protein Low-Carbohydrate
(methods)
- Female
- Glycogen Storage Disease Type III
(blood, diet therapy)
- Humans
- Male
- Transaminases
(blood)
- Treatment Outcome
- Young Adult
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