Neonate / Infant checks

Question 1

‘Heel prick’ / Guthrie test

Answer 1

• Age: 5-8 days
• Tests for:
  
  • Phenylketonuria (PKU)
  • Congenital hypothyroidism (TSH)
    
    • a/w cretinism
  • Sickle cell disease
  • Cystic fibrosis
    
    • Immunoreactive trypsinogen (IRT)
  • Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCADD)
  • Duchenne muscular dystrophy