Rett syndrome (RTT) is a severe neurodevelopmental disorder typically arising from
spontaneous mutations in the X-chromosomal methyl-CpG binding protein 2 (MECP2) gene …

BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is the most common human
peroxisomal disorder, and is caused by mutations in the peroxisomal transmembrane ALD …

X-linked adrenomyeloneuropathy (AMN) is an inherited neurometabolic disorder caused by
malfunction of the ABCD1 gene, characterized by slowly progressing spastic paraplegia …

The peroxisomal disease adrenoleukodystrophy (X-ALD) is caused by loss of the transporter
of very-long-chain fatty acids (VLCFAs), ABCD1. An excess of VLCFAs disrupts essential …

Acyl-CoA binding domain containing 5 (ACBD5) is a critical player in handling very long
chain fatty acids (VLCFA) en route for peroxisomal β-oxidation. Mutations in ACBD5 lead to …

Rett Syndrome is a neurodevelopmental autism spectrum disorder caused by mutations in
the gene coding for methyl CpG-binding protein (MeCP2). The disease is characterized by …

Peroxisomopathies are qualitative or quantitative deficiencies in peroxisomes which lead to
increases in the level of very-long-chain fatty acids (VLCFA) and can be associated with …

Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and
are classified into 3 main groups according to their mechanisms: cellular intoxication, energy …

Biotin is an essential cofactor for carboxylases that regulates the energy metabolism.
Recently, high‐dose pharmaceutical‐grade biotin (MD1003) was shown to improve clinical …

Pelizaeus‐Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by
early impairment of motor development, nystagmus, choreoathetotic movements, ataxia and …