Table 2.

Neurological features and other red flags suggestive of IEM*

Family history of IEM or unexplained infant death

Consanguinity

Failure to thrive

Head circumference > 2 SD above or 2 SD below mean

Recurrent episodes of vomiting, ataxia, seizures, lethargy, and coma

History of being severely symptomatic and needing longer to recover from inter-current (viral) illness

Unusual dietary preferences

Regression in developmental milestones

Severe hypotonia, dystonia, seizures, and abnormal hypertonia (spasticity)

Neuroimaging abnormalities

IEM Inborn errors of metabolism.

*Adapted from ref. (1).