Lipid

Fabry’s disease

FABRY’S:

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

Phenylketonuria: which enzyme is deficient

PHenylketonuria is caused by a deficiency of:

Phenylalanine

Hydroxylase

 

Pompe’s disease: type

Police Po lys“:

Pompe’s disease is a lysosomal storage disease (alpha 1,4 glucosidase).

 

Pyruvate: products of complete oxidation

4 Naked Fun 3 Coeds + 1 Guy”:

Complete oxidation of pyruvate yields:

  • 4 NADH
  • FADH2
  • 3 CO2
  • 1 GTP
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