ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This retrospective chart review included 116 patients aged 0 to 17 y (M:F 94%:6%) with X-linked adrenoleukodystrophy (ALD) managed in one expert medical center from 2006 to 2022. It assessed the impact of newborn screening (which began in the U.S. in 2013 based on measurement of a lysophosphatidylcholine derivative of a very long chain fatty acid (VLCFA) C26:0-LPC, followed if abnormal by ABCD1 gene sequencing), on the age and presentation of adrenal in...

Brief summary: This paper describes consensus expert recommendations for the diagnosis and management of patients with Adrenoleukodystrophy.Adrenoleukodystrophy (ALD), a progressive metabolic disorder with variable and unpredictable clinical course, is caused by pathogenic variants in ABCD1 gene leading to deficient β-oxidation of saturated very-long-chain fatty acids (VLCFAs) (1, 2). Patients are asymptomatic at birth but ...