MOLECULAR STUDY - GLUCOGENESIS TYPE III (AGL) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4004

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	50 days
Information:
GSD-III, which is also called Forbes disease and Cori disease, is caused by a deficiency of the glycogen disbranching enzyme. The lack of activity of this enzyme results in an incomplete breakdown of glycogen and glycogen accumulates. Clinically, GSD-III is characterized by hepatomegaly and hypoglycemia, and patients typically are short in stature. Additionally, most patients have disease involving both liver and muscle, which is termed type IIIa disease. However, in about 15% of the patients, GSD-III appears to involve only the liver, which is classified as type IIIb disease. Furthermore, during infancy and childhood, hepatomegaly, hypoglycemia, hyperlipidemia, and short stature are predominant features. The liver-related symptoms in most GSD-III patients improve with age and are usually resolved after puberty. In patients having muscular involvement, muscle weakness can occur, ranging in severity from not apparent or very minimal during early childhood to severe after the third or fourth decade of life. The patient's serum creatine kinase level can be used to determine muscle involvement; however, a normal level does not rule out the presence of muscle enzyme deficiency. Our laboratory offers complete sequencing of the AGL gene.
Links:
OMIM Entry - #232400 - GLYCOGEN STORAGE DISEASE III
Orphanet- Glycogen debranching enzyme deficiency
OMIM Entry - -610860 - AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE; AGL

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