1. By: Dr. Vahid Nikoui
Email: nikoui@razi.tums.ac.ir

2.  Dependent to Vitamin D Rachitisme Type II
 Resistance to Anderogens:
 Complete testicular feminization (Recessive X-linked)
 Incomplete testicular feminization (Recessive X-linked)
 5-α- Reductase deficiency (Recessive Autosomal)
 Infertility in men (Recessive X-linked)
 Male Pseudohermaphroditism (Recessive X-linked)

3.  Cystic fibrosis:
 Unusual response to α-Adrenergics,
β-Adrenergics and Cholinergics
 Down syndrome:
 More sensitive to Atropine and β-Adrenergics
 Riley-Day syndrome:
 More sensitive to Norepinephrine

5.  Resistant to oral Vitamin B12

6.  Dihydrofolate reductase deficiency syndrome
 Methylene tetrahydrofolate reductase
deficiency syndrome
 Tetrahydrofolate methyl transferase deficiency
syndrome
 Unusual responses to Folate, Cobalamine and
Methotrexate

8.  Increased Succinylcholine esterase activity

9.  6 fold increased activity
 Increased Acetaldehide

10.  Pharmacoethnic differences
 Deceased activity in Indians and Eastern people
 Disulfiram like reaction

12.  Hepatic and Erythropoietic
 Congenital and Acquired
 Neurologic disorders and Photosensitivity
 Increased δ-amino levulinic acid synthase activity
and Heme biosynthesis
 Erythropoeitic protoporphyria: Ferrochelatase
deficiency
 Congenital Erythropoeitic porphyria:
Uroporphyrinogen III cosynthase deficiency
 Acute intermittent porphyria: decreased
Porphobilinogen deaminase
 Hexachlorobenzene and TCDD

13.  Increased Aryl hydrocarbon hydroxylase P450
 Production of toxic, motagen, teratogen and
carcinogen products
 P1 450 and P3 450
 Relationship between AHH induction and
bronchogenic carcinoma risk in smokers
 Relationship between low AHH induction and
Leukemia and Aplastic anemia

14.  Relationship between Pharmacologic disorders
and cancer:
 Low Isoniaside Acetylator labor in chemical
colors companies: Increased risk of bladder
cancer
 High Debrisoquine metabolizers: Increased risk
of hepatic and alimentary cancer and lung
cancer in smokers
 High AHH inducers: Increased risk of
bronchogenic carcinoma in smokers

16.  Albumin , Pre albumin and TBG
 Increased TBG capacity: Dominant Autosomal
 Decreased TBG capacity: X-linked

17.  Primary idiopathic hemochromatosis:
 Two fold increase in Ferrum and occupation
 Not change in total Transferrin and tendency
 Hereditory hemochromatosis:
 Recessive Autosomal

18.  Hepatolenticular degeneration
 Decreased Ceruloplasmin
 Normal amount of Tyrosinase and
Erythrocuprein
 Treatement with Penicillamine

20.  5 % of American people
 Recessive Autosomal
 Ocular products

21.  Hypermetabolic state of skeletal muscles
 Tachycardia, Arrhythmia, Hyperpyrexia and
Rigidity
 Idiopathic increased of sarcoplasm Ca
 Three fold increased O2 consumption during
general anesthesia
 Inhalation halogens and Succinylcholine
 Muscle sample diagnostic test (in-vitro),
sensitivity to Caffeine and Halothane
 Recessive Autosomal

22.  Dose dependent and rarely dose independent
 Anaerobically reduction by P450 II
 Last oxidative metabolite is a suicide substrate
and make a covalent bound to P450.

23.  Dose dependent and reversible
 Dose independent:
 Aplasia, A Pharmacogenetic disorder
 Oxamyl chloride, covalent binding

24.  Gingiva hyperplasia due to Phenytoin
 More thromboembolic disorders in A, B and
AB blood groups

26.  Effects of genetic differences on acute response
to drugs
 Effects of genetic differences on chronic
response to drugs
 Natural selection of different genes by
environmental changes

27.  Clinical observations
 Familiar studies
 Animal studies

28.  Relationship between cancer and acetylation
differences
 Relationship between cancer and Lupus
erythematosus and Hemolytic anemia
 Relationship between Debrisoquine and Ah
locus
 Relationship between neurotoxicity and
acetylation differences
 Labor sensitivity

29.  Ethnopharmacology
 The reason of quantitative differences in drugs
metabolism between different population
 Sickle shape anemia:
 Hemoglobin S heterozygotes are resistant to
malaria