Leukodystrophies associated with lysosomal disorders panel [22 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.
- GLA: Fabry disease
- GALC: Krabbe disease
- SLC17A5: Free sialic acid storage disease
- FUCA1: Fucosidosis
- CTSA: Galactosialidosis
- GLB1, GM2A, HEXA, HEXB: Gangliosidosis
- ARSA, PSAP, SUMF1: Metachromatic leukodystrophy
- CLN5, CLN6, CLN8, CTSD, GRN, KCTD7, MFSD8, PPT1, TPP1: Neuronal ceroid lipofuscinosis
- MCOLN1: Mucolipidosis IV