PGM3 deficiency - definitie. Wat is PGM3 deficiency
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Wat (wie) is PGM3 deficiency - definitie


PGM3 deficiency         
  • In this example, two unaffected parents each carry one copy of a gene mutation for an autosomal recessive disorder. They have one affected child and three unaffected children, two of which carry one copy of the gene mutation.
  • PGM3 domain structures. Three identified mutations are represented. Arrows indicate positions of mutations.<ref name="Zhang"/>
GENETIC DISORDER
PGM3 deficiency is a rare genetic disorder of the immune system associated with diminished phosphoglucomutase 3 function. PGM3 is an enzyme which in humans is encoded by gene PGM3.
Fluorine deficiency         
MEDICAL CONDITION
Fluorine Deficiency; Fluoride deficiency
Fluoride or fluorine deficiency is a disorder which may cause increased dental caries (or tooth decay, is the breakdown of dental tissues by the acidic products released by the "bacterial fermentation of dietary carbohydrates.") and possibly osteoporosis (a bone disorder which leads to a decrease in bone mass, and an increase in bone fragility), due to a lack of fluoride in the diet.
Pseudocholinesterase deficiency         
MEDICAL CONDITION
Plasma cholinesterase deficiency; Vysya enzyme deficiency
Pseudocholinesterase deficiency is an autosomal recessive inherited blood plasma enzyme abnormality in which the body's production of butyrylcholinesterase (BCHE; pseudocholinesterase aka PCE) is impaired. People who have this abnormality may be sensitive to certain anesthetic drugs, including the muscle relaxants succinylcholine and mivacurium as well as other ester local anesthetics.