type III

type III
an autosomal recessive disorder due to mutation in the AGL gene (locus: 1p21), which encodes the glycogen debranching enzyme (amylo-1,6-glucosidase); it usually affects both muscle and liver enzyme isoforms, but can affect the latter alone. Defects in the liver enzyme are characterized by hepatomegaly and hypoglycemia, while defects in the muscle enzyme are characterized by progressive muscle wasting and weakness. Heart and skeletal muscle are also frequently affected. Called also debrancher deficiency.

Medical dictionary. 2011.

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