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Genetic Disorder:

Adrenoleukodystrophy (ALD)

Adrenoleukodystophy (ALD)?

Which of these brains has

The Cause of ALD

  • ALD damages a persons peroxisomes
  • Peroxisomes can't break down VLCFA (Very Long Chain of Fatty Acid)
  • VLCFA is overcrowding the brain and the adrenal glands
  • Mass production of VLCFA cause damage to the myelin sheath or the fatty covering on the nerve fibers in the brain.
  • disturbances of coordination
  • poorly articulated speech
  • vomiting
  • increased skin pigmentation
  • poor school performance
  • learning disabilities

Symptoms & Effects

Diagnosis

  • Chromosome studies to look for changes in the person's ABCD1 gene
  • MRI showing abnormal results in the person's white matter of brain
  • Blood tests for a high level of VLCFA
  • Tests measuring the adrenal function

Prognosis

  • Disease eventually leads to a long-term coma
  • Life expectancy is up to 10 years
  • Bone marrow transplant can be used if detected early
  • aggression
  • poor memory
  • visual loss
  • seizures
  • fatigue
  • deafness

Treatment

  • There isn't a specific treatment available
  • Having a diet low in VLCFA
  • Special Oil- Lorenzo's Oil
  • Exercise and Physical Therapy
  • Bone Marrow Transplant

Type of Genetic Disorder

Current Research

  • Myelin Project: therapy that can help restore myelin or actually reversing the damage
  • ALDR Upregulation: a gene similar to the ALD gene, already existing in a normal form in people with ALD, be better controled
  • Mesenchymal Stem Cell: can be made into different types of cells.

Michael Wales lifted his son, Alex, from his bed to go downstairs. ALD has left Alex unable to see or walk.

ALD Effects

X Chromosome

  • This is a X-linked disorder affecting most male children
  • ALD is passed on to their children

Sources

http://health.nytimes.com/health/guides/disease/adrenoleukodystrophy/overview.html

http://www.disabled-world.com/disability/types/ald-facts.php

http://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy

http://www.stopald.org/ald/currenttreatmentresearch.asp

By: Nathan Tran

Per. 1

12/17/12

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