Sphingolipid Activator Protein Deficiency
Type of defect protein Disease examples Deficient protein; Lysosomal enzymes primarily: Tay-Sachs disease, I-cell disease, 4 Sphingolipidoses e.g., gangliosidosis.
- A clear understanding of how most cells successfully manage their protein repair and disposal has been elusive.
- A Brief Synopsis and History of Arabidopsis Acyl-Lipid Metabolism. Perhaps the best overview of plant acyl-lipid synthesis is provided in the textbook chapter by.
- Sphingolipids are ubiquitous building blocks of eukaryotic cell membranes. Progress in our understanding of sphingolipid metabolism, state-of-the-art sphingolipidomic.
- Proteins are assembled from amino acids using information encoded in genes. Each protein has its own unique amino acid sequence that is specified by the nucleotide.
Jan 04, 2016 Most individuals with metachromatic leukodystrophy have mutations in the ARSA gene, which provides instructions for making the enzyme arylsulfatase A.
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.
