Pathogenic variant(s) in ARSA

Pathogenic variant(s) in ARSA

ARSA encodes the enzyme arylsulfatase A; it is one of two disease genes for MLD. Individuals with homozygous or compound heterozygous pathogenic variants in ARSA have, or will develop, MLD, a progressive neurodegenerative condition with variable age of onset. The other MLD gene is PSAP, which encodes the sphingolipid activator protein SapB (also called saposin B). Other leukodystrophies have additional genetic causes. Refer to UpToDate for details.

MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; VUS: variant of uncertain significance.

* The diagnosis of MLD is established by confirming biallelic pathogenic variants in the ARSA gene and documenting deficient arylsulfatase A enzyme activity in blood leukocytes and/or increased urinary excretion of sulfatides.

¶ Repeated genetic testing may be indicated when there is discordance between the initial genetic test results and the clinical picture. For a VUS, new information about pathogenicity may become available.

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Pathogenic variant(s) in ARSA