Inborn error of metabolism

Question 1

Enzymopathies

Answer 1

structural mutation (genes encode for enzymes used in 
metabolic pathways). Can result in product deficiency or toxic metabolite

Question 2

Phenylketonuria, PKU

Answer 2

autosomal recessive, lack of PAH enzyme that

converts phenylalanine into tyrosine. 2 affected alleles needed

Question 3

Galactosemia

Answer 3

• defect of galactose metabolism. Lack of galt enzyme

Question 4

Glu-6-phos dehydrogenase deficiency

Answer 4

most common
enzymopathy.
X-linked recessive, G6PD protects against malaria. High allele
fr. in certain countries. Normally G6PD protects cells from oxidative stress
(involved in maintaining NADPH. NADPH in turn maintains level of glutathione
in these cells that helps protect red blood cells against oxidative damage).

Question 5

w/o

sufficient G6PD =

Answer 5

Haemolytic anaemia occurs

Question 6

Defects in lipoprotein metabolism causes

Answer 6

FH familial

hyperchosterolemia. –autosomal semi-dominant

Question 7

Diabetes mellitus multifactorial inheritance.

Type 1 & 2?

Answer 7

Metabolic syndrome
Type I: body can’t produce insulin- inject insulin
Type II: receptors on liver are damaged, can’t respond to insulin- more serious,
watch diet.

Question 8

Most common problem with diabetics=

Answer 8

diabetic foot. Inject stem cells into diabetic

foot to save leg- fully compatible