Pathway Disorders Rare autosomal recessive disorders Branching enzyme – (GSD type IV, Andersen, transglucosidase) history not specific, hepatic failure, cirrhosis, hepatosplenomegaly, failure to thrive.
{"Image DocumentName": "Pathway DisordersRare autosomal recessive disorders.", "Image ImageDescription": "Branching enzyme \u2013 (GSD type IV, Andersen, transglucosidase) history not specific, hepatic failure, cirrhosis, hepatosplenomegaly, failure to thrive. Prenatal PCR and DNA analysis. Enzyme assay. Diffuse amylopectin-like deposits in the heart, liver, muscle, spinal cord, and peripheral nerves. Treatment is supportive with liver transplantation and diet. Myophosphorylase \u2013 (GSD type V, McArdle) cramps, fatigue, and pain after exercise (depends on severity of deficiency), unique second-wind phenomenon. Ischemic forearm test positive. Enzyme assay. Periodic acid-Schiff stain gives subsarcolemmal blebs. Treatment by avoiding intense exercise, provide high protein diet. Hepatic phosphorylase \u2013 (GSD type VI, Hers) most common among Mennonite religious group, also X-linked form, history of bulging abdomen, growth retardation, and slight delay in motor milestones, hepatomegaly. Enzyme assay on liver biopsy, RBC, WBC; molecular genetics of gene. Glycogen-distended hepatocytes, muscle normal. Treatment with dietary management as appropriate for clinical presentation. Phosphofructokinase-1 \u2013 (GSD type VII, Tarui, M form, classic) history of exertional fatigue, nausea and vomiting, muscle cramps, hyperuricemia, myoglobinuria following high-intensity exercise. Ischemic forearm test positive. Enzyme assay on muscle biopsy. Periodic acid-Schiff diastase-negative stain gives subsarcolemmal blebs. Treatment to avoid high carbohydrate diet especially before exercise.", "Image XResolution": "37", "Image YResolution": "37", "Image ResolutionUnit": "Pixels/Centimeter", "Image Software": "SlidePlayer", "Image YCbCrPositioning": "Centered"}