Amylo-1, 6-glucosidase, deficiency

Alkyldihydroxyacetonephosphate synthase deficiency 2-Aminoadipate aminotransferase deficiency 2-Aminoadipic semialdehyde synthetase deficiency -Aminolevulinic acid dehydratase deficiency 2-Amino-/2-oxoadipic aciduria Amylo-l,6-glucosidase deficiency Amylopectinosis Andersen disease Androgen Insensitivity syndrome Apolipoprotein A-I deficiency Apolipoprotein B-lOO deficiency Apolipoprotein C-II deficiency... 

In GSD IX (phosphorylase b-kinase deficiency), amylo-l,6-glucosidase activity in RBC is usually elevated. 

Amylo-l,6-glucosidase is the enzyme deficient in glycogenosis type III (GSD III, MIM 232 400). 

Amylo-l,6-a-glucosidase, glycogen debranching enzyme (EC 3.2.133) deficient. Glycogen has short outer chains and is dextrin-like. Liver enlarged in infancy but may decrease in adolescence. Moderate hyftoglycenha. Lactic acidosis mild or absent. Prognosis favorable. 

Cori and Cori have drawn attention to the fact that abnormal storage of glycogen in skeletal muscle or heart muscle cannot be explained by a lack of G-6-Pase since this enzyme is normally absent from these tissues. Their suggestion that the activity of amylo-l,6-glucosidase be measured in these tissues has been followed up, and a deficiency of this enzymatic activity in muscle glycogen storage disease has been established (Illingworth et al., 1956). 

This is due to the deficiency of the enzyme amylo-1,6-glucosidase, the enzyme which debranches glycogen. As a result, a glycogen having abnormally short branches accumulates in the tissues. 

A deficiency of amylo-l,6-glucosidase (the debrancher enzyme ) has also been recognized for a considerable time. This results in the accumulation of 2Ui abnormal glycogen with short... 

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