Inborn error of metabolism

Question 1

What is maple syrup disease?

Answer 1

Inborn error of amino acid metabolism: leucine, isoleucine, valine

Question 2

What is homocysteinuria?

Answer 2

• Inherited disorder of metabolism of amino acid
• Autosomal recessive
• Defect in methionine

Question 3

What is Gaucher’s disease?

Answer 3

• Deficient enzyme glucocerebrosidase
• Breakdown of lipid glucocerebroside
• Symptoms present at any age
• Enlarged liver/basement membrane/spleen, anaemia, impaired clotting, possible neuro damage if prolonged

Question 4

What is phenylketonuria?

Answer 4

• Inherited condition
• Impaired conversion of the phenylalanine to tyrosine due to a defect of phenylalanine hydroxylase
• Phenylalanine levels inc can cause brain damage
• Fair hair due to a decline in melanin production