Biochemistry

Fabry's disease

 

"FABRY'S"

  • Foam cells in glomeruli/ Febrile episodes
  • Alpha galactosidase A deficiency/ Angiokeratomas
  • Burning pain in extremities/ Boys/ BUN increased in serum
  • Renal failure
  • YX phenotype (male, X linked recessive)
  • Sphingolipidoses

 

3.5

Galactosemia: deficient enzyme

"GALIPUT"

  • Galactose 1 Phosphate Uridyl Transferase.
4

Branched chain amino acids: Catabolism

"Truck hit the Ox to Death"

The following are the steps in the catabolism of Branched chain amino acids (BCAAs).

  • Transamination
  • Oxidative decarboxylation
  • Dehydrogenation
4

Branched chain amino acids

"LeVIs"

 

  • Leucine
  • Valine
  • Isoleucine

 

 The combination of these three branched chain amino acids (BCAA)  makes up approximately 1/3 of skeletal muscle in the human body.

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