Think of IEM if Family GENES

 F-Family history: consanguinity, affected members, NNDs.

 G-Groups of congenital anomalies or obvious dysmorphism.
 E-Extreme or exceptional presentation of common conditions.
 N-Neurologic symptoms (unexplained encephalopathy).
 E- Extreme or unusual pathology (unusual smell).
 S-Surprising lab values.
One important feature of IEM's is that both symptoms and signs may worsen after stress or
feeding.
Clinical characteristics:

 Developmental delay or regression of milestones.

 Failure to thrive.
 Unexplained encephalopathy, intractable seizures.
 Cyclical vomiting, faddy eating (high protein intolerance), behavioural changes
and neurologic deficits.
 Cardiomyopathy.
 Jaundice, and/or liver failure.
 Visceromegaly.
 Unexplained severe and/or persistent hypoglycemia or unexplained acidosis.