Adrenoleukodystrophy

(lorenzo’s oil)
Adrenoleukodystrophy
General Overview
• Leads to progressive brain damage
• Inherited disease
• X-linked disease
• Recessive
• Autosomal
• Affects 1 in 20,000 people in the U.S.
• (approx. 17,350)
• There is no cure for ALD and it is not likely
there will be one
Lorenzo Odone
• Most famous patient with ALD
• His parents invented “Lorenzo’s Oil” to try
to prevent and stop the progression of ALD
• It is still being researched and it is
controversial
• A movie was made about him in 1992 and
Phil Collins wrote a song about him called
Lorenzo
Genotypes
Symptoms
• Onset generally begins between the ages
of 4-10
• Include loss of neurologic abilities,
seizures, ataxia, Addison’s disease, and
degeneration of sight and hearing
• It is diagnosed by genetic testing
• Death occurs within 1-10 years of the
presentation of symptoms
• Symptoms are all mental except for
seizures
Prognosis
• There is no cure for Adrenoleukodystrophy
• Treatment is only for symptoms to make
patients comfortable
• Bone marrow transplants and gene
therapy is being researched
Experimental Therapies
• In France, Stem cell research is being
used to attempt to cure ALD
• A treatment related to the protein CD34+
which is a surface protein is under
research however it is difficult to find a
compatible donor
Lorenzo’s Oil
• Lorenzo’s oil is a treatment invented by the
Parents of Lorenzo Odone to treat ALD
• It is a mixture of fats extracted from olive
oil and rapeseed
Life with Adrenoleukodystrophy
• http://frank.mtsu.edu/~jsanborn/dslwl.htm
Helping families cope with ALD
• Aldsupport.org
• Aldlife.org