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Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body.
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Classic symptomatic progression of juvenile X-linked adrenoleukodystrophy is shown in the 1992 film, Lorenzo's Oil. [ 10 ] Course and timetable are dependent on the age of onset with infants showing a lifespan of 2–8 years, juveniles 2–10 years and adults typically 10+ years.
Lorenzo's Oil is a 1992 American drama film directed and co-written by George Miller.It is based on the true story of Augusto and Michaela Odone, parents who search for a cure for their son Lorenzo's adrenoleukodystrophy (ALD), leading to the development of Lorenzo's oil.
The other two disorders are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). [5] [6] Although all have a similar molecular basis for disease, Zellweger syndrome is the most severe of these three disorders. [7] Zellweger syndrome is associated with impaired neuronal migration, neuronal positioning, and brain development. [4]
The Odones' story was first depicted in the 1990 Italian television film Voglia di vivere, starring Tomas Milian and Dominique Sanda. [11] It was later made into the 1992 film Lorenzo's Oil, in which Augusto was played by Nick Nolte and Michaela by Susan Sarandon, who, through her involvement with the movie, became the spokesperson of The Myelin Project.
The subdivisions of this spectrum are hyperpipecolic acidemia, infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. It can also be referred to as peroxisomal biogenesis disorders, Zellweger syndrome spectrum, NALD, cerebrohepatorenal syndrome, and ZSS. [ 2 ]
Ann Boody Moser (born 1940) is an American biochemist specializing in neurology. She researches the development of therapies for adrenoleukodystrophy.Moser is an associate professor emerita in neurology at the Johns Hopkins University.