All are pharmacogenetic conditions except: (LQ)
|A||G - 6 - PD deficiency|
|D||Adenosine deaminase deficiency|
Genetic defects which lead to discontinuous variations in drug response are:
- Atypical pseudocholinesterase – Prolonged succinylcholine Apnoea
- G-6 PD deficiency – Hemolysis with primaquine and other oxidizing drugs like sulfonamides. Dapsone, quinine, chloroquine, nalidixic acid, nitrofurantoin and menadione.
- Acetylators polymorphism – isoniazid neuropathy, procainamide and hydralazine induced lupus in slow acetylators.
- Acute intermittent porphyria – Precipitated by barbiturates due to genetics defect in repression of porphyrin synthesis
- CYP2D6 abnormality causes poor metoprolol / debrisoquin metabolism status.
- Malignant hyperthermia after halothane
- Inability to hydroxylate phenytoin toxicity at usual doses.
- Resistance to coumarin anticoagulants due to an abnormal enzyme (that regenerates the reduced form of vit. K. which has low affinity for the coumarins.
- Precipitation of an attack of angle closure glaucoma by mydriatics in individuals with narrow iridocorneal angle.