Abstract
In a prospective study of 19 pregnancies monitored by amniocentesis at the Center for Human Genetics and the Meyer Rehabilitation Institute, University of Nebraska, Omaha, an adverse outcome was predicted for four fetuses on the basis of low epoxide hydrolase activity (30% of standard).
Highlights
Where glycogen storage is membrane bound and is found in most skin cells including fibroblasts, sweat glands, smooth muscle fibers, endothelial cells, and Schwann cells
Skin biopsy appeared to be useful in diagnosis of glycogenosis III and its differentiation from other glycogen storage disorders
Enzyme deficiencies occur in liver, muscle, heart, leukocytes, erythrocytes, fibroblasts, and muscle cultures
Summary
Where glycogen storage is membrane bound and is found in most skin cells including fibroblasts, sweat glands, smooth muscle fibers, endothelial cells, and Schwann cells. Skin biopsy appeared to be useful in diagnosis of glycogenosis III and its differentiation from other glycogen storage disorders. Childhood types present with heart failure and exercise intolerance. Adults develop gradual weakness and wasting of distal muscles and may have a history of abdominal enlargement with hepatic dysfunction in early childhood.
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