Childhood adrenoleukodystrophy

Lazo, O., Contreras, M., Hashmi, M., Stanley, W., Irazu, C. Singh, I. (1988) Proc. Natl. Acad Sci. U. S. A. 85, 7647-7651. Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy. 

Naidu, S., M. J. Bresnan, D. Griffin, S. O Toole, and H. W. Moser. 1988. Childhood adrenoleukodystrophy. Failure of intensive immunosuppression to arrest neurologic progression. Arch Neurol 45 846-848. 

Three genetic disorders Zellweger s syndrome, neonatal adrenoleukodystrophy, and childhood adrenoleukodys-trophy) exhibit defective formation of peroxisomes (in Zellweger s syndrome no morphologically detectable peroxisomes are present) or deficiency of one or more constituent enzymes. All three disorders are characterized by a marked accumulation of very long chain, saturated, unbranched fatty acids (tetracosanoic and hexacosanoic acids) in liver and central nervous system tissues, severe neurological symptoms, and early death. 

Loes, D. J., A. E. Stillman, S. Hite, E. Shapiro, L. Lockman, R. E. Latchaw, H. Moser, and W. Krivit. 1994. Childhood cerebral form of adrenoleukodystrophy short-term effect of bone marrow transplantation on brain MR observations. AJNR Am J Neuroradiol 15 1767-1771. Luzi, R, M. A. Rafi, and D. A. Wenger. 1995. Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Hum Mol Genet 4 2335-2338. 

Shapiro, E., W. Krivit, L. Lockman, 1. Jambaque, C. Peters, M. Cowan, R. Harris, S. Blanche, P. Bordigoni, D. Loes, R. Ziegler, M. Crittenden, D. Ris, B. Berg, C. Cox, H. Moser, A. Fischer, and P. Aubourg. 2000. Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Lancet 356 713-718. 

In X-linked adrenoleukodystrophy, the usefulness of bone marrow transplantation has been encouraging in clinically mildly affected patients with the childhood form of X-linked ALD. Adrenocortical insufficiency should be treated with steroid-hormone substitution. 

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