Leukodystrophies associated with intermediary metabolism disorders panel [17 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.
- L2HGDH: L-2-hydroxyglutaric aciduria
- ACER3: Alkaline ceramidase 3 deficiency
- RPIA: Ribose-5-phosphate isomerase deficiency
- FOLR1: Cerebral folate transport deficiency
- GBE1: Adult polyglucosan body disease
- ASPA: Canavan disease
- PAH: Phenylketonuria
- GALT: Galactosemia
- RARS: RARS-related hypomyelinating leukodystrophy
- CBS: Homocystinuria
- MTHFR: Homocystinuria due to methylenetetrahydrofolate reductase deficiency
- PYCR2: Hypomyelinating leukodystrophy-10 (HDL10)
- DEGS1: Hypomyelinating leukodystrophy-18 (HDL18)
- FA2H: Fatty acid hydroxylase-associated neurodegeneration
- ELOVL4: Pseudo-Sjögren-Larsson syndrome
- ALDH3A2: Sjögren-Larsson syndrome
- CYP27A1: Cerebrotendinous xanthomatosis