Searchable abstracts of presentations at key conferences in endocrinology

ea0038p63 | Clinical practice/governance and case reports | SFEBES2015

A case to remember

Rahman Mohammad , Obuobie Kofi , Hickin Tom , Hamdan Khaliq

Introduction: X-linked adrenoleucodystrophy (XALD) is a progressive disorder affecting adrenal glands, testis, and myelin stability, that normally caused by mutations in ABCD1 (NM_000033) gene There is a failure of β-oxidation of fatty acids within peroxisomes due to reduced activity of very long chain acyl-CoA synthetase and can be diagnosed by the demonstration of elevated very long chain fatty acid.Case report: We report a case of a 32-y...