Endocrine Abstracts

Introduction: Adrenomyeloneuropathy (AMN) is a form of X-linked adrenoleukodystrophy (X-ALD) a rare inherited disorder (estimated prevalence 1:20 000 to 1:50 000) characterized by the accumulation of very long chain fatty acids (VLCFA) and affects mainly the nervous system white matter and the adrenal cortex and nearly 100% penetrance in males. Widely varying phenotypes and prognoses often co-occur in a single kindred.Methods: We report a case diagnosed ...