Newborn Assessment

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