Leukodystrophies associated with peroxisomal disorders panel [19 genes]
Among the pathological mechanisms underlying leukodystrophy and other inherited leukoencephalopathies, inborn errors of metabolism stand out, and they can be divided into peroxisomal lysosomal, mitochondrial and energy, and intermediate metabolism disorders.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
- ABCD1: Adrenoleukodystrophy
- ACOX1: Peroxisomal acyl-CoA oxidase deficiency
- HSD17B4: D-bifunctional protein deficiency
- PEX7, PHYH: Refsum disease
- SCP2: Leukoencephalopathy with dystonia and motor neuropathy (LKDMN)
- PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26: Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS)