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Pathway Description
Adrenoleukodystrophy, X-Linked
Homo sapiens
Disease Pathway
Adrenoleukodystrophy (ALD) is an X-linked recessive transmission disease. Central nervous system signs and symptoms have been consistently more prominent than signs of adrenal involvement. Behavioral changes are the most common initial finding and range from aggressive outbursts to withdrawal. Such behavior is generally accompanied by a gradually failing memory and poor school performance. Loss of vision is an early finding in some patients and is a prominent feature at some stage in most affected individuals. The initial visual loss appears as homonomous hemianopsia in some individuals and is usually associated with intact pupillary reflexes. Optic atrophy is less common as an initial finding but eventually develops in almost all cases. Gait disturbance is also an early finding and as is stiff-legged, unsteady and accompanied by hyperreflexia. In almost all cases there is spastic quadraplegia and a variable degree of decorticate posturing. Hearing loss, dysarthria and dysphagia develop at about the same time as gait disturbance. Seizures are a typical symptom in many affected individuals in the the end stages of the disease progression.
References
Adrenoleukodystrophy, X-Linked References
Raymond GV, Moser AB, Fatemi A: X-Linked Adrenoleukodystrophy.
Pubmed: 20301491
Lu JF, Lawler AM, Watkins PA, Powers JM, Moser AB, Moser HW, Smith KD: A mouse model for X-linked adrenoleukodystrophy. Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9366-71. doi: 10.1073/pnas.94.17.9366.
Pubmed: 9256488
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Lodish, H. et al. Molecular cell biology. (2004) New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
Lawson LD, Kummerow FA: beta-Oxidation of the coenzyme A esters of elaidic, oleic, and stearic acids and their full-cycle intermediates by rat heart mitochondria. Biochim Biophys Acta. 1979 May 25;573(2):245-54. doi: 10.1016/0005-2760(79)90058-4.
Pubmed: 444549
Yu W, Liang X, Ensenauer RE, Vockley J, Sweetman L, Schulz H: Leaky beta-oxidation of a trans-fatty acid: incomplete beta-oxidation of elaidic acid is due to the accumulation of 5-trans-tetradecenoyl-CoA and its hydrolysis and conversion to 5-trans-tetradecenoylcarnitine in the matrix of rat mitochondria. J Biol Chem. 2004 Dec 10;279(50):52160-7. doi: 10.1074/jbc.M409640200. Epub 2004 Oct 4.
Pubmed: 15466478
Muoio DM, Seefeld K, Witters LA, Coleman RA: AMP-activated kinase reciprocally regulates triacylglycerol synthesis and fatty acid oxidation in liver and muscle: evidence that sn-glycerol-3-phosphate acyltransferase is a novel target. Biochem J. 1999 Mar 15;338 ( Pt 3)(Pt 3):783-91.
Pubmed: 10051453
Hunt MC, Solaas K, Kase BF, Alexson SE: Characterization of an acyl-coA thioesterase that functions as a major regulator of peroxisomal lipid metabolism. J Biol Chem. 2002 Jan 11;277(2):1128-38. doi: 10.1074/jbc.M106458200. Epub 2001 Oct 22.
Pubmed: 11673457
Zammit VA: The malonyl-CoA-long-chain acyl-CoA axis in the maintenance of mammalian cell function. Biochem J. 1999 Nov 1;343 Pt 3(Pt 3):505-15.
Pubmed: 10527927
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