BIOCHEM REVISION

 

One Liners Unit

  • Parent alcohol in carbohydrates – Glycerol
  • Parent carbohydrate which gives rise to other carbohydrates – D-Glyceraldehyde
  • Minimum number of carbons possible in a carbohydrate – 1
  • Minimum number of –OH groups possible in a carbohydrate – 2
  • Minimum number of functional groups possible in a carbohydrate – 3
  • Reduction methods of glucose estimation → Nelson Somogyi, Folin Wu, Ortho toluidine
  • Enzymatic methods of glucose estimation – Hexokinase & GOD/POD
Aminoaciduria/Condition
Test
PKU/Alkaptonuria
Ferric chloride test
MSUD
Dinitro phenyl hydrazine test
PKU
Guthrie test
Hartnup disease
Obermeyer test
Homocystinuria
Cyanide nitroprusside test
Pheochromocytoma
La Brosse VMA spot test
Carcinoid syndrome
5 HIAA
Urine Odor
Inborn Error of Metabolism
Fruity
DKA
Maple syrup
Maple syrup urine disease
Swimming pool
Hawkinsinuria
Cat urine
3-Hydroxy-3-methylglutaric aciduria
Oast house
Methionine Malabsorption / Beer baby syndrome
Dried malt / hops like
Oasthouse syndrome
Sweaty feet
Isovaleric acidemia
Sweaty feet
Glutaric acidemia (type II)
Boiled cabbage
Hypermethioninemia
Cabbage
Tyrosinemia 1
Tomcat urine
Multiple carboxylase deficiency
Mousy/Musty
Phenylketonuria
Rotting fish
Trimethylaminuria

aka Fish Odour Syndrome
↳ Avoid Choline
↳ Avoid cola with fishy smell
 
Disorder
Enzyme Defect
Phenylketonuria
Phenylalanine hydroxylase/DHB reductase/defect in THB synthesis
Tyrosinosis (Tyrosinemia type I)
Maleyl Acetate isomerase or Fumarylacetoacetate hydrolase
Maple syrup urine disease
Branched-chain alpha-keto acid dehydrogenase (BCKAD)
Alkaptonuria
Homogentisate oxidase
Albinism
Tyrosinase
Homocystinuria type I
Cystathionine β synthase
Homocystinuria type II
Methionine synthase
Cystathioninuria
Cystathionase
Tyrosinemia type I
Fumaryl acetoacetate hydrolase
Tyrosinemia type II
(Richner-Hanhart syndrome)
Tyrosine transaminase or Tyrosine aminotransferase
Tyrosinemia type III
PHPP hydroxylase
Primary hyperoxaluria
Alanine glyoxalate aminotransferase
Hypervalinemia
Valine transaminase
Isovaleric acidemia
Isovaleryl CoA dehydrogenase (Δ/W leucine catabolism)
Histidinemia
Histidase
Hyperprolinemia type I
Proline oxidase