brancher enzyme deficiency

brancher enzyme deficiency
branch·er en·zyme de·fi·cien·cy (branchґər enґzīm) glycogen storage disease, type IV.

Medical dictionary. 2011.

См. также в других словарях:

  • deficiency — An insufficient quantity of some substance (as in dietary d. or hemoglobin d. in marrow aplasia); organization (as in mental d.); activity (as in enzyme d. or reduced oxygen carrying capacity of the blood), etc., of which the amount present is of …   Medical dictionary

  • 14-α-glucan branching enzyme — 1,4 α glu·can branch·ing en·zyme (glooґkan branchґing enґzīm) [EC] an enzyme of the transferase class that catalyzes the cleavage of internal α 1,4 glucoside linkages in glycogen (or, in plants, amylopectin) and transfer… …   Medical dictionary

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • glycogenosis — Any of the glycogen deposition diseases characterized by accumulation of glycogen of normal or abnormal chemical structure in tissue; there may be enlargement of the liver, heart, or striated muscle, including the …   Medical dictionary

  • type IV — an autosomal recessive disorder due to mutation in the GBE1 gene (locus: 3p12), which encodes the glycogen branching enzyme (1,4 α glucan branching enzyme), resulting in accumulation of long insoluble glycogen molecules with unbranched outer …   Medical dictionary

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