Peroxisomes are highly dynamic, oxidative organelles with key metabolic functions in
cellular lipid metabolism, such as the β-oxidation of fatty acids and the synthesis of myelin …

Background X-linked adrenoleukodystrophy (X-ALD) is highly variable, ranging from slowly
progressive adrenomyeloneuropathy to severe brain demyelination and inflammation …

Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous
synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources …

The advancements in population screening, including newborn screening, enables the
identification of disease-causing variants and timely initiation of treatment. However …

Newborn screening (NBS) for X-linked adrenoleukodystrophy (ALD) can identify affected
individuals before the onset of life-threatening manifestations. Some countries have decided …

Abstract and keywords The gold-standard diagnostic test for peroxisomal disorders (PDs) is
plasma concentration analysis of very long-chain fatty acids (VLCFA). However, this …

Background X-linked adrenoleukodystrophy (ALD) is a neurometabolic disorder caused by
pathogenic variants in ABCD1 resulting very long-chain fatty acids (VLCFA) accumulation in …

Lipids play pivotal roles in an extensive range of metabolic and physiological processes. In
recent years, the convergence of trapped ion mobility (TIMS) and mass spectrometry (MS) …

The field of inherited metabolic diseases (IMD) has initially emerged and developed over
decades in pediatric departments. Still, today, about 50% of patients with IMD are adults …

X-linked adrenoleukodystrophy (XALD) is the most common leukodystrophy. It has an
estimated incidence of around 1/17.000, and a variable phenotype. Following the passage …