Metachromatic Leukodystrophy (MLD)

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(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)
Pathophysiology: Lysosomal storage disease causing progressive demyelination of central and peripheral nervous sytem, also affecting kidneys and other visceral organs due to accumulation of cerebroside sulfate
Inheritance: Autosomal recessive

  • 1:2,500 in Navajo (closely related to Athabascan)
  • 1:40,000-1:100,000 in northern Europe and North America


  • Children have normal development until onset of disease
  • Late infantile onset = 6m/o - 2y/o (up to 4y/o). regression of motor skills, gait difficulties, seizures, ataxia, hypotonia, extensor plantar responses, optic atrophy, fussiness/pain/distress - thought to be due to neuropathy or dystonia
  • Juvenile and adult onset => 4y/o. gait disturbance, ataxia, seizures, intellectual impairment, behavioral difficulties, upper motor neuron signs, peripheral neuropathy


  • Brain MRI: symmetric white matter lesions with periventricular predominance (early) and cortical atrophy (late)
  • Genetic testing for deficient ARSA (arylsulfatase A) gene activity
    • Option 1: blood draw 6-8mL green top (min 2mL) plus optional 1-2mL lavender top for DNA extraction if worried about aged specimens
    • Option 2: blood spots on PKU card


  • Consult YKHC on call Pediatrician and assign CPP status
  • refer to Pediatric Neurology
  • no curative treatment
  • Bone marrow transplant, gene therapy and hematopoietic stem cell transplant are all investigational with goal of slowing the disease course
  • Prognosis for late infantile and early juvenile onset is poor (death within 5 to 6 years)

Critical Times for Affected Patients:

  • Recognition of symptoms and accurate diagnosis


Common/Unique Medical Diagnoses