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