Catastrophic Presentations of Metabolic Disease in the Newborn

• Nonspecific findings may mimic shock, sepsis or SIDS
• Lethargy, irritability, hyperactivity
• Failure to feed well
• Hypothermia or fevers (fevers due to viral illnesses and those in which no cause is discovered)
• Cyanosis
• Seizures
• Vomiting
• RTA
• Jaundice (early and/or prolonged)
• Diarrhea or abdominal bloating

Exam of the Infant

• Odor
• Neurologic: tone, level of alertness, deep tendon reflexes
• General: dysmorphic features, large liver or spleen