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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