Nitrogen 3 Flashcards
What are inherited metabolic disorders?
Group of genetic diseases involving metabolic defects
What are interited metabolic disorders usually due to?
A single gene
What do inherited metabolic disorders usually result in?
Deficiencies of key enzymes
What does the deficiency of key enzymes cause?
Abnormal synthesis of proteins, amino acids, carbohydrates or lipids
Are inherited metabolic disorders common?
No, they are typically rare
What are the consequences of a key enzyme defect?
Decreased formation of desired product
Accumulation of substance before the enzyme with the defect
Increase formation of other, unwanted metabolites
What kind of inheritance do most inherited metabolic disorders show?
Autosomal reccesive inheritance
What does autosomal dominance inheritance look like?
What does autosomal recessive inheritance look like?
What are some common clinical features of inherited metabolic disorder presening in childhood?
Acidosis
Failure to thrive
Vomiting
CNS dysfunction
Hypoglycaemia
Unusual odour
Why do proteins need to be immedietely metabolised?
There is no storage facility like carbohydrates
Where does the urea cycle happen?
Split between the mitochondrial matrix and cytosol
What happens in the urea cycle?
Ammonia goes in and urea comes out
What are urea cycle defects?
Defects in any of the 6 enzymes involved
How many inherited disorders of the urea cycle are there?
6
