Loading....
Coupon Accepted Successfully!

 

Some Inborn Error of Metabolism

  1. Pentosuria - Disease of uronic acid parhway
     
                      - defect of enzyme L-xylitol dehydrogenase
     
                      - L-sylulose in blood & excreted in urine
  2. Norum’s ds - LCAT deficiency (failure of cholesterol esterification) Cholesterol + lecithin LCAT  Lysolecithin + Ch-ester
  3. Hereditary fructose - defect of aldolase – B
     
    Intolerance
  4. Refsum’s disease - phytanate α- oxidase defect
  5. Cystinuria - Excretion of cysteine. Ornithine, lysine Arginine is urine (COLA)
     
                      Amino acid carrier (transport) defect in renal tubular cells
  6. Dibasic AMINOACIDURIA - increased escretion of dibasic amino acids O, L, A.
  7. Cystinosis - due to deficiency of cystine reductase
  8. Homocystinuria - deficiency of cystathione synthatase leading to overflow aminoaciduria Cod fish vertebrae, hepatomegaly. Osteoporosis, ectopia lentis, Charlie Chaplin gait Na-CN – nitroprusside test in urine for cysteine
  9. Maple syrup urine - enzyme deficiency α-ketoacid decarboxylase
  10. disease - branched chain (leucine, isoleucine, valine) ketonuria
     
                - burnt sugar like odour
  11. Orotic aciduria - deficiency of OMP decarboxylase Megaloblastic anemia is seen
  12. Alkaptonuria - deficiency of homogentisate oxidase
     
                        - occurrence of dark urine on standing in air, generalized pigmentation Of connective tissues and desposition in joints leading to arthritis (ochronmosis)
  13. Tyrosinosis - defieincy of fumaryl aceto acetate hydrolase (tyrosinemia type-I)
  14. Albinism - def. of tyrosinase (inherited defect in melanocytes of eye & skin)
  15. Glutaric aciduria - Ketoacidosis, hypotonia hypoglycemia. ‘Sweaty feet odour’
    1. "Sweaty Feet" odour is seen in isovaleric acidemia & glutaric aciduria
    2. "Mousy or Musty Odour" of skin, hair and urine is seen in PKU.
    3. Boiled cabbage like urinary odour is seen in - Tyrosinemia & hypermethioninemia
    4. Swimming pool urine odour is seen in - Hawkinsinuria.
Extra Edge : 
  1. "Sweaty Feet" odour is seen in isovaleric acidemia & glutaric aciduria
  2. "Mousy or Musty Odour" of skin, hair and urine is seen in PKU.
  3. Boiled cabbage like urinary odour is seen in - Tyrosinemia & hypermethioninemia
  4. Swimming pool urine odour is seen in - Hawkinsinuria.

Biochemical tests

Biochemical tests

a. For CBH

Molisch’s test  (all sugars)

Selwanoff’s test  (D-fructose)

Fearon’s test (to distinguish lactose from sucrose/monosaccharide)

b. For Ketones

Rothera’s test, sodium nitroprusside test,

c. For cholesterol

Salkowski, Liebermann-Burchard, Ziemann’s (mnemonic-Sali Zi)

d. For cholesterol

Fouchet’s ragent (also Cole, Foam, Iodine)

e. For cholesterol

Hay’s Sulphur test, Pettenkofer test

f. For Urobilinogen

& porphobilinogen

Ehrlich’s aldehyde test






Test Your Skills Now!
Take a Quiz now
Reviewer Name