Mitochondrial Disease Clinical Pathway, Emergency Department and Inpatient – Cohort

Mitochondrial Disease Clinical Pathway — Emergency Department and Inpatient

Cohort

This pathway guides the ED and inpatient care for children with genetically confirmed, primary mitochondrial disease.

For individual instruction, refer to:

  • Metabolism/Mitochondrial Care Coordination notes
  • ED Patient Letter
  • Last Metabolism/Mitochondrial clinic note

Note: These children may be followed at CHOP by Mitochondrial Medicine, Metabolism, or Neurogenetics; once approaching adulthood and actively transitioning to adult care providers, admission to an adult facility may be indicated.

Exclusions

  • Suspected mitochondrial disease
  • Presence of other inborn errors of metabolism or primary genetic or neuromuscular diseases that do not directly involve the mitochondria (i.e., secondary mitochondrial dysfunction)
Inborn Errors of Metabolism
Non-respiratory chain mitochondrial proteins involved
  • Fatty acid oxidation defects
    • Mitochondrial trifunctional protein (TFP, CPT2, CACT, LCHAD)
  • Urea cycle defects
    • Ornithine transcarbamylase deficiency
  • Organic acidopathies
    • MMA, PA, IVA, GA-1, cobalaminopathy
  • Aminoacidopathies
    • MSUD, PKU
Primary Genetic Disease
Mitochondria not directly involved, may have secondary mitochondrial dysfunction
  • Trisomy 21
  • 22q11.2 microdeletion syndrome
  • Cornelia de Lange syndrome
  • Rett syndrome
  • Cockayne syndrome
  • Angelman syndrome
  • STXBP1-related epilepsy
  • NBIA disorders (i.e., PKAN, BPAN)
  • Phelan-McDermid syndrome
  • Autism with “cerebral folate deficiency” or “mitochondrial dysfunction” of other genetic etiology
Toxic/Infectious Exposures
  • Long COVID syndrome
  • Lyme disease
  • Autoimmune encephalitis
Neuromuscular Disorders
  • Duchenne muscular dystrophy
  • Nemaline myopathy