Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism
نویسندگان
چکیده
منابع مشابه
Structure and function of sphingosine-1-phosphate lyase, a key enzyme of sphingolipid metabolism.
Sphingosine-1-phosphate lyase (SPL), a key enzyme of sphingolipid metabolism, catalyzes the irreversible degradation of sphingoid base phosphates. Its main substrate sphingosine-1-phosphate (S1P) acts both extracellularly, by binding G protein-coupled receptors of the lysophospholipid receptor family, and inside the cell, as a second messenger. There, S1P takes part in regulating various cellul...
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I T is my intent to gather together facts pertaming to the lipidoses which might serve to focus on current problems and to call attention to possible therapeutic approaches. The particular lipidoses to be discussed involve the accumulation in tissues of sphingolipids and may be referred to as sphingolipidoses. They may be classified as “inborn errors of sphingolipid metabolism” on the basis tha...
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Primary adrenal insufficiency is life threatening and can present alone or in combination with other comorbidities. Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1). SGPL1 executes the final decisive step of the sphingolipid breakdown pathway, mediating the irre...
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This is the first report of a patient with aminoacylase I deficiency. High amounts of N-acetylated amino acids were detected by gas chromatography-mass spectrometry in the urine, including the derivatives of serine, glutamic acid, alanine, methionine, glycine, and smaller amounts of threonine, leucine, valine, and isoleucine. NMR spectroscopy confirmed these findings and, in addition, showed th...
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Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 f...
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ژورنال
عنوان ژورنال: Advances in Biological Regulation
سال: 2019
ISSN: 2212-4926
DOI: 10.1016/j.jbior.2018.09.004