title: Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.
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.
authors: Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSH&RC), Riyadh, Saudi Arabia. zhassnan@kfshrc.edu.sa
authors: Zuhair N
authors: ZN
authors: Al-Hassnan
authors: Hesham
authors: H
authors: Al Dhalaan
authors: Zoltan
authors: Z
authors: Patay
authors: Eissa
authors: E
authors: Faqeih
authors: Mohammed
authors: M
authors: Al-Owain
authors: Adel
authors: A
authors: Al-Duraihem
authors: Mohammed
authors: M
authors: Faiyaz-Ul-Haque
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D002490:Central Nervous System / Q000378:metabolism / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D008297:Male; D009154:Mutation / Q000235:genetics*; D012529:Saudi Arabia; D049128:Sphingolipid Activator Proteins / Q000172:deficiency* / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D049128:Sphingolipid Activator Proteins