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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.
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.
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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 ]
The one exception to this is any type of leukodystrophy carried on a sex chromosome, such as X-linked adrenoleukodystrophy, which is carried on the X-chromosome. Because of the inheritance pattern of X-linked diseases, males are more often affected by this type of leukodystrophy, while female carriers are often symptomatic, though not as ...
26874 Ensembl ENSG00000173208 ENSMUSG00000055782 UniProt Q9UBJ2 Q61285 RefSeq (mRNA) NM_005164 NM_011994 NM_001358967 RefSeq (protein) NP_005155 NP_036124 NP_001345896 Location (UCSC) Chr 12: 39.55 – 39.62 Mb Chr 15: 91.03 – 91.08 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse ATP-binding cassette sub-family D member 2 is a membrane pump/transporter protein that in humans is ...
The 1994 episode of The Critic entitled "Dr. Jay", in which the main character Jay Sherman works to discover a cure for his boss's terminal disease, was a parody of the story. A poem Michaela wrote about Lorenzo was set to music by Phil Collins. Titled "Lorenzo", the resulting song was featured on his 1996 album Dance into the Light. [12]
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]