Neurometabolic Conditions and Services

We specialize in the diagnosis and care of patients with known or suspected metabolic disorders affecting the brain. When you visit our clinic, you will have a consultation with a genetic counselor and doctors who specialize in neurology and medical and biochemical genetics. They will work with your family and the rest of your neurometabolic care team to diagnose and develop a treatment plan for your child’s rare condition.

Conditions we treat include:

  • Mitochondrial disorders
    • Leigh syndrome
    • MELAS
    • Mitochondrial DNA deletion and depletion syndromes
  • Neurotransmitter disorders
    • PTPS deficiency
  • Lysosomal storage disorders
    • Metachromatic leukodystrophy (MLD)
    • Krabbe disease
    • Batten disease
    • Gaucher’s disease types II and III
    • Mucopolysaccharidoses
  • Peroxisomal disorders
  • Other leukodystrophies (disorders of cerebral white matter)
    • Alexander disease
    • Vanishing white matter disease
    • PLP1-related disorders
  • Other neurometabolic disorders
    • NGLY1 deficiency
    • Congenital disorders of glycosylation

For other rare genetic conditions affecting the nervous system, please visit our Neurogenomics Clinic.

Some related disorders may be best evaluated by other clinics at Stanford Medicine Children’s Health

These may include: