Inborn Errors of Metabolism:

A two-year-old child is brought to emergency ward with the complaints of seizures, spasticity,
regression, failure to thrive, stunted growth, microcephaly, seborrhea, eczema and musty odor of skin,
urine and breath. He has blonde hair and patches of hypo-pigmented areas on skin. History shows that
the baby was not delivered in hospital setting and has not gone through any diagnostic tests after birth.
Family history shows mental retardation in first degree relatives as well.

Which of the following laboratory test will you recommend for this patient?

A. LEVELS of thyroid hormone or TSH

B. Phenylalanine to tyrosine ratio
C. Hydrogen breath test
D. Liver biopsy
E. Comprehensive Metabolic Panel