PMID: 9556303Apr 29, 1998Paper

X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds

American Journal of Medical Genetics
M RuizM Girós

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by an impairment in peroxisomal beta-oxidation of very long straight-chain fatty acids (VLCFAs). Six clinical phenotypes have been delineated: childhood cerebral (CCALD), adolescent cerebral (AdolCALD), adult cerebral (ACALD), adrenomyeloneuropathy (AMN), Addison-only (AO), and presymptomatic (PALD). The distribution of phenotypes varies in different countries. We have diagnosed biochemically 60 X-ALD Spanish patients belonging to 48 kindreds. Their phenotypic distribution was: CCALD plus AdolCALD, 33%; ACALD, 16%; AMN, 27%; AO, 12%; and PALD, 12%. These results contrast with the distribution described in other countries, due to a higher prevalence of the ACALD form. Regarding the expression of the protein product (ALDP), we studied 17 kindreds using immunochemical techniques and found absence of ALDP in 84% of cases. We also studied 13 females from 7 negative ALDP kindreds in order to correlate ALDP expression and the carrier status established by VLCFA measurement. In one case with normal VLCFA levels in serum and fibroblasts, we observed mosaicism in ALDP expression. This fact supports the use of this technique for identifying carriers.

References

Nov 15, 1992·American Journal of Medical Genetics·N E Maestri, T H Beaty
Jan 1, 1992·Journal of Inherited Metabolic Disease·H W MoserW Krivit
Jan 1, 1995·Journal of Inherited Metabolic Disease·H W Moser
Feb 1, 1994·Human Molecular Genetics·J MosserJ L Mandel
Jan 1, 1996·Journal of Inherited Metabolic Disease·S KempR J Wanders
Mar 1, 1991·Trends in Endocrinology and Metabolism : TEM·P Aubourg, J L Chaussain

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Citations

Mar 10, 2009·Brain & Development·Laura Bannach JardimRoberto Giugliani
Jul 31, 2007·Dermatologic Clinics·Medhat A El-MoftyMona R E Abdel-Halim
Jun 24, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Alex R KemperSusan Tanksley
Oct 13, 2018·Orphanet Journal of Rare Diseases·Alice BesseyAnthea Sutton

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