4th March 2024

A 5-day-old baby has just had his blood spot test, which has been positive

A 5-day-old baby has just had his blood spot test, which has been positive for an inheritable metabolic condition. It is known that if this condition remains untreated, it would have resulted in learning difficulties, seizures and microcephaly. This would have eventually led to irreversible intellectual disability.

What disease has likely been detected on the blood spot test?

Select the SINGLE most appropriate option from the list below. Select ONE option only.