Clinical, biochemical & molecular spectrum of adrenoleukodystrophy: A single centre experience.

ABSTRACT: Background & objectives Adrenoleukodystrophy (ALD), caused by a mutation in the ABCD1 gene has a heterogenous clinical spectrum. Very long chain fatty acid (VLCFA) levels, neuroimaging findings and genetic analysis play a role in the final diagnosis. This paper presents a single centre experience on clinical, biochemical and molecular characteristics of ALD. Methods In this cross-sectional study, 35 individuals with ALD were included. Apart from their clinical characterisation, evaluation of their VLCFA levels was done. VLCFA levels and their ratios were also analysed in 383 healthy controls, and ROC curves were prepared to identify suitable cut-offs for the Indian population. Molecular characterisation by ABCD1 gene sequencing was also done. Molecular modelling techniques were used to asc

SUBMITTER: Kumar S 

PROVIDER: S-EPMC12624746 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature