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Metabolic Disorders

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Glycogen storage: names of types I through VI

"Viagra Pills Cause A Major Hardon":

Von Gierke's (Type 1 = one (Von))

Pompe's  ("Police = Po + lys": lysosomal storage disease)





Glycogen storage: Anderson's (IV) vs. Cori's (III) enzyme defect


Anderson's=Branching enzyme.

Cori's=Debranching enzyme.


Causes of Metabolic acidosis (normal anion-gap)

· With hyperkalemia: RAISE K+:

RTA type 4

Aldosterone or mineralocorticord deficiency

Iatrogenic: NH4Cl, HCl

"Stenosis": obstructive uropathy

Early uremia

· With hypokalemia: ReDUCE K+:

Renal TA type 1 and 2


Urine diversion into gut

Carbonate anhydrase inhibitor



Galactosaemia: enzyme deficiency

 GALIPUT: Galactose 1 Phosphate Uridyl Transferase.

· There is an assay called the Galiput test for this.

Van den Bergh reaction (Jaundice test)

"Indirect reacting bilirubin = Unconjugated bilirubin":

Both start with vowels, so they go together : Indirect & Unconjugated.


Fabry's disease



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)



G6PD: oxidant drugs inducing hemolytic anemia AAA :

Antibiotic (eg: sufamethoxazole)

Antimalarial (eg: primaquine)

Antipyretics (eg: acetanilid, but not aspirin or acetaminophen)


Porphyrias: acute intermittent porphyria symptoms 5 P's:

Pain in abdomen


Psychologial abnormalities

Pink urine

Precipitated by drugs (eg barbiturates, oral contraceptives, sulpha drugs)

(Porphyrias are a group of inborn errors of metabolism associated with Heme synthesis )