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Adrenoleukodystrophy. Lorenzo’s Oil. By Nicolette Laird. Adrenoleukodystrophy facts. Also known as Addison-Schilder Disease, Siemerling-Cruetz Feldt Disease, ALD Rare disease 1 in 20,000 people have disease Leads to brain damage, failure of adrenal glands, death

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adrenoleukodystrophy

Adrenoleukodystrophy

Lorenzo’s Oil

By Nicolette Laird

adrenoleukodystrophy facts
Adrenoleukodystrophy facts
  • Also known as Addison-Schilder Disease, Siemerling-Cruetz Feldt Disease, ALD
  • Rare disease
    • 1 in 20,000 people have disease
  • Leads to brain damage, failure of adrenal glands, death
  • Part of leukodystropies group
symptoms
Symptoms
  • Damages myelin- tissue that insulates nerves and help conduct impulses
  • Transporter protiens are missing in people with ALD
  • Long Chain Fatty Acids build up in body
  • Can damage adrenal glands and brain
inheritance
Inheritance
  • X-linked disease
    • Abnormal gene located on x-chromosome
  • Inherited through autosomal recessive inheritance
    • Gene carrying mutation is located on one of the 1-22 chromosome pairs
slide5
For example:
  • If a female carrier has daughters with an unaffected man, the daughters have a 50% chance of becoming a carrier.
  • If a female carrier has sons with an unaffected man, the sons have a 50% chance of developing the disease
slide6
If both parents are carriers, there is a 50% chance that the children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will have the disease.
three types of ald
Three Types of ALD
  • Childhood cerebral form
    • Most common type
  • Adult-onset form
  • Mild forms of ALD found in carriers
childhood cerebral form
Behavioral changes

Abnormal withdrawal, aggression

Poor memory

Poor school performance

Visual loss

Learning disabilities

Seizures

Poorly articulated speech

Difficulty swallowing

Deafness

Disturbances of gait and coordination

Fatigue

Intermittent vomiting

Increased skin pigmentation

Progressive dementia

Childhood cerebral form
  • Occurs in ages 4-10
  • Death usually occurs 1-10 years after onset of symptoms

Symptoms

adult onset form
Adult Onset-form
  • Progressive stiffness
  • Weakness or paralysis of lower limbs
  • ataxia
  • Occurs in ages 21-35

Symptoms

mild forms of ald
Mild forms of ALD
  • Carriers can develop mild forms of ALD

Symptoms

  • Progressive stiffness
  • Weakness or paralysis of lower limbs
  • Ataxia
  • Excessive muscle tone
  • Mild peripheral neuropathy
  • Urinary problems
diagnosis
Diagnosis
  • Blood levels taken to see if there are elevated very-long chain fatty acids
  • Chromosome study are taken to see if there is an ABCD1 gene mutation
  • MRI taken of brain to show damage to white matter of brain
treatments
Treatments
  • Adrenal function tested periodically in patients
  • Physical therapy
  • Psycological support
  • Special education
  • Lorenzo’s oil (mixture of oleic acid and eruci acid)
    • Can reduce/delay symptoms in boys with ALD
  • Bone marrow transplants
    • Carries risk of death
  • Oral administered docosa hexanoic acid (DHA) in infants with neonatal ALD
research
Research
  • Gene therapy- temporarily removing appropriate cells from patient, inserting corrected genetic sequence
    • Disease process will stop or reverse and begin to make needed enzymes
  • Myelin Restoration
lorenzo odone
Lorenzo Odone
  • Borne May 29, 1978 to Michaela and Augusto Odone
  • Was diagnosed with ALD at age 6
  • Was unable to hear, move, see, or swallow
  • Parents would not let him die
    • Researched ALD
    • Came up with Lorenzo’s oil and helped save his life
  • Parents must attend Lorenzo 24/7
  • Parents stopped going to parties or doing anything to care for son
  • Died One day after his 30th birthday
support groups
Support groups
  • http://www.aldfoundation.org/
  • http://www.alds.org.au/ald.htm
  • http://www.lifeknowledgepark.org.uk/projects/patientsupport/supportgroup.php
bibliography
http://www.healthsystem.virginia.edu/urahealth/hub_cancer/ari.cfmhttp://www.healthsystem.virginia.edu/urahealth/hub_cancer/ari.cfm

http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm

http://www.umm.edu/ency/article/001182.htm

http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001182.htm

http://www.stopald.ord/watisals/asp

http://i.dailymail.co.uk/i/pix/2008/06/01/article-0-003D583400000258-790_468x665.jpg

http://www.sjsu.edu/faculty/gerstman/StatPrimer/autorecessive.jpg

http://www.ulf.org/types/xALD/html

http://www.thisislondon.co.uk/showbiz/article-23489187-details/His+parents%27+battle+to+save+him+inspired+the+film+Lorenzo%27s+Oil.+Now+Lorenzo+Odone%27s+sister+writes+movingly+of+a+life+that+taught+her+the+meaning+of+hope.../article.do

http://rarediseases.about.com/od/myelindisorders/p/lorenzoodone.htm

http://www.26noticias.com.ar/adjuntos/imagen/85178.jpg

http://ghr.nlm.nih.gov/handbook/illustrations/xlinkrecessivemother.jpg

Bibliography