Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy.
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ABSTRACT:
SUBMITTER: Palakuzhiyil SV
PROVIDER: S-EPMC7672940 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
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Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy.
Palakuzhiyil Shruti V SV Christopher Rita R Chandra Sadanandavalli Retnaswami SR
World journal of biological chemistry 20201101 3
X-linked adrenoleukodystrophy (X-ALD), an inborn error of peroxisomal β-oxidation, is caused by defects in the ATP Binding Cassette Subfamily D Member 1 (<i>ABCD1</i>) gene. X-ALD patients may be asymptomatic or present with several clinical phenotypes varying from severe to mild, severe cerebral adrenoleuko-dystrophy to mild adrenomyeloneuropathy (AMN). Although most female heterozygotes present with AMN-like symptoms after 60 years of age, occasional cases of females with the cerebral form hav ...[more]
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