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Article

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

The Indian journal of medical research - 1 Aug 2025

Kumar Somesh, Bothra Meenakshi, Choudhary Neha, Faruq Mohammed, Suravajhala Renuka, Jetly Sunita, Kumar Polipalli Sunil, Kumar Arun, Uppal Komal, Suravajhala Prashanth, Saran Ravindra K, Kabra Madhulika, Kapoor Seema

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41100649
DOI: 10.25259/IJMR_782_2024
PMCID: PMC12624746

Genes

ABCD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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