Inborn errors of metabolism

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Background

Over hundreds of diseases

Suspect in any sick neonate

Newborn screening varies by states, California tests for 29 major diseases

May present as late as early childhood


Diagnosis

Exam and history:

  • Lethargic (2/2 hyperammonia encephelopathy)
  • Nausea/vomiting
  • Difficulty feeding
  • Seizure
  • Strange odors
  • Hypotonia


Work-Up

Elevated Ammonia

  • Key to suspect diagnosis, however there are a few diseases where ammonia may be normal
  • +/- Hypoglycemia, metabolic acidosis, anion gate, elevated lactate, ketones

Sepsis work up usually concomitant, if patient is ill as these children are prone to infections


DDx

in neonates: THE MISFITS

see Neonatal Resuscitation


Treatment

Must stop catabolism and acculmulation of toxins/ammonia

  • IVF with Dextrose at 1-1.5x maintenace
  • Don't feed
  • Dialysis (ammonia >500)
  • NaBicarb if acidotic
  • Consider L-carnitine in conjuction with specialist, as some diseases may respond (but has side effects)
  • Antibiotics-- assume sepsis
  • if seizing-- consider Vit B6/pyroxidine

See Also

see Neonatal Resuscitation