Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature

J Child Neurol. 2009 Dec;24(12):1513-9. doi: 10.1177/0883073809341269.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Amino Acid Substitution / genetics
  • Central Nervous System / metabolism
  • Central Nervous System / physiopathology
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Infant
  • Leukodystrophy, Metachromatic / genetics*
  • Leukodystrophy, Metachromatic / metabolism*
  • Leukodystrophy, Metachromatic / physiopathology
  • Male
  • Mutation / genetics*
  • Saudi Arabia
  • Sphingolipid Activator Proteins / deficiency*
  • Sphingolipid Activator Proteins / genetics*


  • Genetic Markers
  • Sphingolipid Activator Proteins