- debrancher enzyme deficiency
- de·branch·er en·zyme de·fi·cien·cy (de-branchґər enґzīm) glycogen storage disease, type III.
Medical dictionary. 2011.
Medical dictionary. 2011.
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
Glycogen storage disease — Classification and external resources Glycogen ICD 10 E74.0 … Wikipedia
Glycogen storage disease type III — Classification and external resources Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H E stain … Wikipedia
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
List of causes of hypoglycemia — This is a list of causes of hypoglycemia. Despite its length, it is not necessarily exhaustive, as new causes are reported regularly in the medical literature. In many individual instances of hypoglycemia, more than one contributing factor may be … Wikipedia
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.… … Medical dictionary
Affaire Jesse Gelsinger — Jesse Gelsinger, né le 18 juin 1981 et décédé le 17 septembre 1999, souffrait d’une maladie génétique rare qui se résumait à une carence en ornithine transcarbamylase (OTC). Suite à de nombreuses complications comme l’inefficacité à métaboliser… … Wikipédia en Français