Metabolic Disorders and Treatment Strategies

Question 1

Barbiturates

Answer 1

CNS depressants (avoid with acute intermittent poryphoria)

Question 2

Acute Intermittent Poryphoria

Answer 2

Rare, AD disease where you don’t have heme (avoid barbiturates)

Question 3

Galactosemia

Answer 3

can’t process galactose - simply avoid

Question 4

Phenylketonuria

Answer 4

lacking PAH (98%) or PAH co-factor, avoid PA (take NT balancers if missing co-factor).

Question 5

congenital hypothyroidism

Answer 5

replace with thyroid hormone

Question 6

biotinidase deficiency

Answer 6

replace with biotin

Question 7

Urea cycle deficiency

Answer 7

lacking an enzyme to convert nitrogen to urea, can become hyperammonemia

Question 8

Sodium benzoate

Answer 8

an alternative pathway for nitrogen excretion

Question 9

Oral resins

Answer 9

Diversion for heterozygous hypercholesteremia

Question 10

What can be a diverter for hypercholesteremia?

Answer 10

oral resins

Question 11

Statins

Answer 11

Inhibit HcGMA in liver, which produces cholesterol. Inhibition treatment for heterozygous hypercholesteremia.

Question 12

LDL apheresis

Answer 12

blood passed out from donor to machine which eliminates cholesterol - for SEVERE (homozygous) hypercholesteremia