Adrenoleukodstrophy by Sabrina Sanchez Period 4 Biology (H) 2002

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AdrenoleukodstrophybySabrina SanchezPeriod
4Biology (H) 2002
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Mode of Inheritance

• Adrenoleukodstrophy (ADL) is a rare inherited
  metabolic disorder
• ADL is an X-linked recessive gene
• Inherited in males although neonatal autosomal
  ADL may also affect females
• Disease is caused by a single mutation at the
  locus Xa28
• 50 chance disease will pass from other to
  offspring

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Signs and Symptoms

• Hyperactivity, crossed eyes, swallowing
  difficulties, muscle spasms and spasticity
• Progressive nervous system deterioration
• Paralysis, hearing loss, blindness, and
  vegetative shock
• Other occasional symptoms include seizures,
  decreased appetite, shock, cyanosis and tachypnea
  (rapid respirations)

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Incidence of ALD in the population

• Incidence is though to be slightly greater than
  seven out of 100,000 people
• One form of ALD affects children between the ages
  four thru ten one out of 4,000
• In men ALD affects three out of 200,000
• In women, one out of 200,000
• Milder onset form of ALD ranges from the ages
  21-35 one out of 250,000

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Testing for the gene of ALD

• Skin biopsy and fibroblast culture showing
  elevated levels of long chain fatty acids.
• MRI of the head showing damage to the white
  matter of the brain.
• Head CT

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Traditional/Gene therapies

• Bone marrow transplant portion of donated
  marrow cells find their way to the brain. They
  express the appropriate ALD protein that has been
  missing or not functioning properly the brain
  damage has been halted or may be reversed
• Chemotherapy/radiation that allows the donor
  cells to engraft, or become accepted
• 4 Phenylbuterate is a drug currently used for a
  variety of disorders

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Webibiography

• NINDS Adrenoleukodystrophy Infopage
  http//www.ninds.nih.gov/healthandmedical/disorder
  s/adrenoludoc.htm
• Linda Gostinger http//www.accessexcellence.org
  /AE/AEPC/WWC/1994/adreno.html
• WebMD http//my.webmd.com/content/asset/adam-d
  isease-adrenoleukodystrophy
• STOP ALD Foundation http//www.stopald.org/Ald
  /currentherapies.asp