Sphingolipid Activator Protein B Deficiency: Report of 9 Saudi Patients and Review of the Literature
- 2 December 2009
- journal article
- case report
- Published by SAGE Publications in Journal of Child Neurology
- Vol. 24 (12), 1513-1519
- https://doi.org/10.1177/0883073809341269
Abstract
Mutated PSAP gene resulting in sphingolipid activator protein B deficiency is known to cause metachromatic leukodystrophy variant in which arylsulfatase A is normal. Of 16 patients with metachromatic leukodystrophy that were evaluated in our center, 7 patients were diagnosed with arylsulfatase A—deficient metachromatic leukodystrophy, whereas 9 children from 4 unrelated Saudi families were found to have sphingolipid activator protein B deficiency. PSAP analysis found that the 4 families segregate the same homozygous mutation that was a g.722G>C transversion resulting in C241S change, which was previously reported in an Arab patient. Our work, which reports the largest series of patients with sphingolipid activator protein B deficiency, suggests that this variant is likely to be more common than arylsulfatase A—deficient metachromatic leukodystrophy in Arabs, a notion that has potential diagnostic and preventive implications.Keywords
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