C10 Metabolic disorders

Question 1

What is phenylketonuria (PKU)

Answer 1

• An amino acid disorder caused by the absence of phenylalanine hydroxylase leading to inability to convert phenylalanine to tyrosine.
• Symptoms: Mental retardation, behavioral problems, seizures, eczema

Question 2

Suggest strategies for managing PKU.

Answer 2

• Restriction of dietary protein
• Supplementation of essential amino acid except offending.
• Allowed phenylalanine determined by enzymatic activity and blood levels.
• High protein, fruits, and vegetables but limit grains.

Question 3

What are the nutritional concerns for PKU?

Answer 3

• Growth retardation
• Nutritional and amino acid deficiency
• Bone-status
• Over-restriction

Question 4

Describe urea cycle disorders and its symptoms

Answer 4

• Impaired capacity to excrete nitrogen in the form of urea, causing hyperammonemia.
• Symptoms include loss of appetite, lethargy, mental retardation, behavioral abnormalities.