Ontology highlight
ABSTRACT:
SUBMITTER: Amorosi CA
PROVIDER: S-EPMC3534082 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Amorosi Cyntia Anabel CA Myskóva Helena H Monti Mariela Roxana MR Argaraña Carlos Enrique CE Morita Masashi M Kemp Stephan S Dodelson de Kremer Raquel R Dvoráková Lenka L Oller de Ramírez Ana María AM
PloS one 20121231 12
X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disease associated with mutations in the ABCD1 gene that encodes an ATP-binding cassette transporter protein, ALDP. The disease is characterized by increased concentrations of very long-chain fatty acids (VLCFAs) in plasma and in adrenal, testicular and nervous tissues, due to a defect in peroxisomal VLCFA β-oxidation. In the present study, we analyzed 10 male patients and 17 female carriers from 10 unrelated pedigrees with X-ALD fr ...[more]