ALD/Lorenzo's Oil

Martin Kennedy mkennedy at chmeds.ac.nz
Wed May 10 02:53:36 EST 1995


In article <Pine.SOL.3.91.950505101011.1446C-100000 at minerva>, Branford Edulink Account <brfd1 at minerva.cis.yale.edu> writes:
> I'm a high school student at Branford high school and I am doing a 
> research report on ALD/Lorenzo's Oil.  I was wondering if anyone could 
> help me with the following questions:
> 
> 1. When was this disease discovered? How?

According to Dr H. Moser, Siemerling and Creutzfeld described a 
case of ALD in 1923, although it wasn't until 1963 that Fanconi 
et al proposed that this was a disease with an X-linked mode of 
inheritance. The first report concerned a 7 year old boy who had 
been unwell for 3-4 years, suffered from darkened skin patches 
and showed neurological deterioration (disturbed speech and gait) 
by 6.5 years, leading to death.
 
> 2. how is it transmitted?

It is X-linked; i.e., the gene which (when defective) causes ALD is 
on the X chromosome.  This means males with a single X show the 
disease, whereas female carriers, with 2 X's, tend to be less affected 
because they usually have one normal gene.
 
> 3. What parts of the nervous system does it effect? How?

It takes two forms; the childhood form is more severe and usually 
causes death by age of 10.  The adult form (known as 
adrenomyeloneuropathy, or AMN) has a slower course and is usually 
less severe.  Both are caused by defects in the same gene, and 
bith types may be found in one family.  The gene is for a 
transporter molecule that sits within the membrane of a 
subcellular organelle known as the peroxisome.  It is thought 
that the damaged protein cannot import an enzyme needed for the 
metabolism of fatty substances, known as very long-chain fatty 
acids.  These substances (the VLCFA) accumulate in various 
tissues of the body, including the central nervous system.  It is 
thought that an immune reaction is triggered, which somehow 
causes loss of the myelin (the insulating sheath) around nerves.  
This causes the neurological symptoms of ALD.

> Thank you very much in advance.

> Erica Carrano

Incidentally, and unfortunately, Lorenzo's oil does not appear to 
work well, if at all.  At most it seems to slightly slow the appearance 
of some symptoms, but doesn't seem to affect the neurological 
deterioration.
-- 
Cheers,

Martin

NNNN   NN  Martin A Kennedy (E-mail = mkennedy at chmeds.ac.nz)  ZZZZZZZ  
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