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Allergy & Immunology918 papers

Inherited disorder of thyroid metabolism

Last edited: 4/14/2026

Overview

Sphingosine Lyase Insufficiency Syndrome (SPLIS) or SGPL1 Deficiency is a rare inherited disorder characterized by steroid-resistant nephrotic syndrome, primary adrenal insufficiency, lymphopenia, ichthyosis, and potential endocrine and neurologic abnormalities 1.

Diagnosis

  • Identification of pathogenic variants in the SGPL1 gene through genetic testing 1.
  • Clinical features including steroid-resistant nephrotic syndrome and primary adrenal insufficiency aid in diagnosis 1.
  • Laboratory findings may include abnormal steroid hormone levels and renal function tests 1.

    • Management

  • No specific treatments mentioned in the provided abstracts; management focuses on supportive care for symptoms 1.
  • Hormonal replacement therapy may be necessary for adrenal insufficiency 1.
  • Regular monitoring of renal function and electrolyte balance is crucial 1.

    • Special Populations

  • No specific information provided regarding pregnancy, pediatrics, elderly, or comorbidities in the given abstracts 1.

    • Key Recommendations

  • Genetic testing for SGPL1 pathogenic variants is essential for confirming the diagnosis (Evidence: Expert opinion 1).
  • Supportive care addressing nephrotic syndrome and adrenal insufficiency should be implemented (Evidence: Expert opinion 1).
  • Regular clinical and laboratory monitoring is recommended to manage complications (Evidence: Expert opinion 1).

    • References

    1 Ron HA, Scobell R, Strong A, Salazar EG, Ganetzky R. Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature. American journal of medical genetics. Part A 2022. link 2 Buntyn JO, Burdick Sanchez NC, Schmidt TB, Erickson GE, Sieren SE, Jones SJ et al.. The metabolic, stress axis, and hematology response of zilpaterol hydrochloride supplemented beef heifers when exposed to a dual corticotropin-releasing hormone and vasopressin challenge. Journal of animal science 2016. link 3 Takatori A, Akahori M, Kawamura S, Itagaki S, Yoshikawa Y. Localization and age-related changes in cytochrome P450 expression in APA hamster livers. Experimental animals 2000. link 4 Venkatakrishnan K, von Moltke LL, Court MH, Harmatz JS, Crespi CL, Greenblatt DJ. Comparison between cytochrome P450 (CYP) content and relative activity approaches to scaling from cDNA-expressed CYPs to human liver microsomes: ratios of accessory proteins as sources of discrepancies between the approaches. Drug metabolism and disposition: the biological fate of chemicals 2000. link 5 Miles CS, Lederer F, Lê KH. Probing intramolecular electron transfer within flavocytochrome b2 with a monoclonal antibody. Biochemistry 1998. link 6 Schneider K, Gollan U, Dröttboom M, Selsemeier-Voigt S, Müller A. Comparative biochemical characterization of the iron-only nitrogenase and the molybdenum nitrogenase from Rhodobacter capsulatus. European journal of biochemistry 1997. link 7 Hagishita T, Yoshida T, Izumi Y, Mitsunaga T. Immunological characterization of serine-glyoxylate aminotransferase and hydroxypyruvate reductase from a methylotrophic bacterium, Hyphomicrobium methylovorum GM2. FEMS microbiology letters 1996. link 8 Rivoal J, Dunford R, Plaxton WC, Turpin DH. Purification and properties of four phosphoenolpyruvate carboxylase isoforms from the green alga Selenastrum minutum: evidence that association of the 102-kDa catalytic subunit with unrelated polypeptides may modify the physical and kinetic properties of the enzyme. Archives of biochemistry and biophysics 1996. link 9 Boivin D, Bilodeau D, Béliveau R. Immunochemical characterization of L-isoaspartyl-protein carboxyl methyltransferase from mammalian tissues. The Biochemical journal 1995. link 10 Stadler R, Wolf K, Hilgarth C, Tanner W, Sauer N. Subcellular localization of the inducible Chlorella HUP1 monosaccharide-H+ symporter and cloning of a Co-induced galactose-H+ symporter. Plant physiology 1995. link 11 Meyer W, Moll R, Kath T, Schäfer G. Purification, cloning, and sequencing of archaebacterial pyrophosphatase from the extreme thermoacidophile Sulfolobus acidocaldarius. Archives of biochemistry and biophysics 1995. link 12 Katayama Y, Narahara Y, Inoue Y, Amano F, Kanagawa T, Kuraishi H. A thiocyanate hydrolase of Thiobacillus thioparus. A novel enzyme catalyzing the formation of carbonyl sulfide from thiocyanate. The Journal of biological chemistry 1992. link 13 Miller JM, Miller JM. Duffy proteins and disturbances of glucose metabolism in blacks. Journal of the National Medical Association 1991. link 14 Knecht E, Roche E, Hernandez-Yago J, Vargas JL, Grisolia S. Regulatory mechanisms of intracellular proteolysis in mammalian cells. Biomedica biochimica acta 1986. link 15 Storm-Mathisen J, Ottersen OP, Fu-Long T, Gundersen V, Laake JH, Nordbø G. Metabolism and transport of amino acids studied by immunocytochemistry. Medical biology 1986. link 16 Choi SY, Churchich JE. Biosynthesis of 4-aminobutyrate aminotransferase. European journal of biochemistry 1986. link 17 Schönholzer F, Schweingruber AM, Trachsel H, Schweingruber ME. Intracellular maturation and secretion of acid phosphatase of Saccharomyces cerevisiae. European journal of biochemistry 1985. link 18 Dueland S, Bouillon R, Van Baelen H, Pedersen JI, Helgerud P, Drevon CA. Binding protein for vitamin D and its metabolites in rat mesenteric lymph. The American journal of physiology 1985. link 19 Sokatch JR, Burns G. Oxidation of glycine by Pseudomonas putida requires a specific lipoamide dehydrogenase. Archives of biochemistry and biophysics 1984. link90036-5) 20 Hoosein MA, Lewin AS. Derepression of citrate synthase in Saccharomyces cerevisiae may occur at the level of transcription. Molecular and cellular biology 1984. link 21 Ager RP, Oliver RW. Separation of oestrogens in biological fluids and synthetic mixtures on Sephadex G-type gels. Journal of chromatography 1983. link80222-8) 22 Lin CI, Ohnishi T, Clejan L, Beattie DS. The presence of the iron-sulfur protein (subunit V) of complex III in mitochondria of heme-deficient yeast cells lacking iron-sulfur clusters detectable by electron paramagnetic resonance. European journal of biochemistry 1983. link 23 Roberts AD, Billeter R, Howald H. Anaerobic muscle enzyme changes after interval training. International journal of sports medicine 1982. link 24 Mucklow JC, Fraser HS, Bulpitt CJ, Kahn C, Mould G, Dollery CT. Environmental factors affecting paracetamol metabolism in London factory and office workers. British journal of clinical pharmacology 1980. link 25 Kelley WN, Holmes EW, Van der Weyden MB. Current concepts on the regulation of purine biosynthesis de novo in man. Arthritis and rheumatism 1975. link

    Original source

    1. [1]
      Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature. — Ron HA, Scobell R, Strong A, Salazar EG, Ganetzky R American journal of medical genetics. Part A (2022)
    2. [2]
      The metabolic, stress axis, and hematology response of zilpaterol hydrochloride supplemented beef heifers when exposed to a dual corticotropin-releasing hormone and vasopressin challenge. — Buntyn JO, Burdick Sanchez NC, Schmidt TB, Erickson GE, Sieren SE, Jones SJ et al. Journal of animal science (2016)
    3. [3]
      Localization and age-related changes in cytochrome P450 expression in APA hamster livers. — Takatori A, Akahori M, Kawamura S, Itagaki S, Yoshikawa Y Experimental animals (2000)
    4. [4]
      Comparison between cytochrome P450 (CYP) content and relative activity approaches to scaling from cDNA-expressed CYPs to human liver microsomes: ratios of accessory proteins as sources of discrepancies between the approaches. — Venkatakrishnan K, von Moltke LL, Court MH, Harmatz JS, Crespi CL, Greenblatt DJ Drug metabolism and disposition: the biological fate of chemicals (2000)
    5. [5]
      Probing intramolecular electron transfer within flavocytochrome b2 with a monoclonal antibody. — Miles CS, Lederer F, Lê KH Biochemistry (1998)
    6. [6]
      Comparative biochemical characterization of the iron-only nitrogenase and the molybdenum nitrogenase from Rhodobacter capsulatus. — Schneider K, Gollan U, Dröttboom M, Selsemeier-Voigt S, Müller A European journal of biochemistry (1997)
    7. [7]
      Immunological characterization of serine-glyoxylate aminotransferase and hydroxypyruvate reductase from a methylotrophic bacterium, Hyphomicrobium methylovorum GM2. — Hagishita T, Yoshida T, Izumi Y, Mitsunaga T FEMS microbiology letters (1996)
    8. [8]
      Purification and properties of four phosphoenolpyruvate carboxylase isoforms from the green alga Selenastrum minutum: evidence that association of the 102-kDa catalytic subunit with unrelated polypeptides may modify the physical and kinetic properties of the enzyme. — Rivoal J, Dunford R, Plaxton WC, Turpin DH Archives of biochemistry and biophysics (1996)
    9. [9]
      Immunochemical characterization of L-isoaspartyl-protein carboxyl methyltransferase from mammalian tissues. — Boivin D, Bilodeau D, Béliveau R The Biochemical journal (1995)
    10. [10]
      Subcellular localization of the inducible Chlorella HUP1 monosaccharide-H+ symporter and cloning of a Co-induced galactose-H+ symporter. — Stadler R, Wolf K, Hilgarth C, Tanner W, Sauer N Plant physiology (1995)
    11. [11]
      Purification, cloning, and sequencing of archaebacterial pyrophosphatase from the extreme thermoacidophile Sulfolobus acidocaldarius. — Meyer W, Moll R, Kath T, Schäfer G Archives of biochemistry and biophysics (1995)
    12. [12]
      A thiocyanate hydrolase of Thiobacillus thioparus. A novel enzyme catalyzing the formation of carbonyl sulfide from thiocyanate. — Katayama Y, Narahara Y, Inoue Y, Amano F, Kanagawa T, Kuraishi H The Journal of biological chemistry (1992)
    13. [13]
      Duffy proteins and disturbances of glucose metabolism in blacks. — Miller JM, Miller JM Journal of the National Medical Association (1991)
    14. [14]
      Regulatory mechanisms of intracellular proteolysis in mammalian cells. — Knecht E, Roche E, Hernandez-Yago J, Vargas JL, Grisolia S Biomedica biochimica acta (1986)
    15. [15]
      Metabolism and transport of amino acids studied by immunocytochemistry. — Storm-Mathisen J, Ottersen OP, Fu-Long T, Gundersen V, Laake JH, Nordbø G Medical biology (1986)
    16. [16]
      Biosynthesis of 4-aminobutyrate aminotransferase. — Choi SY, Churchich JE European journal of biochemistry (1986)
    17. [17]
      Intracellular maturation and secretion of acid phosphatase of Saccharomyces cerevisiae. — Schönholzer F, Schweingruber AM, Trachsel H, Schweingruber ME European journal of biochemistry (1985)
    18. [18]
      Binding protein for vitamin D and its metabolites in rat mesenteric lymph. — Dueland S, Bouillon R, Van Baelen H, Pedersen JI, Helgerud P, Drevon CA The American journal of physiology (1985)
    19. [19]
      Oxidation of glycine by Pseudomonas putida requires a specific lipoamide dehydrogenase. — Sokatch JR, Burns G Archives of biochemistry and biophysics (1984)
    20. [20]
      Derepression of citrate synthase in Saccharomyces cerevisiae may occur at the level of transcription. — Hoosein MA, Lewin AS Molecular and cellular biology (1984)
    21. [21]
      Separation of oestrogens in biological fluids and synthetic mixtures on Sephadex G-type gels. — Ager RP, Oliver RW Journal of chromatography (1983)
    22. [22]
      The presence of the iron-sulfur protein (subunit V) of complex III in mitochondria of heme-deficient yeast cells lacking iron-sulfur clusters detectable by electron paramagnetic resonance. — Lin CI, Ohnishi T, Clejan L, Beattie DS European journal of biochemistry (1983)
    23. [23]
      Anaerobic muscle enzyme changes after interval training. — Roberts AD, Billeter R, Howald H International journal of sports medicine (1982)
    24. [24]
      Environmental factors affecting paracetamol metabolism in London factory and office workers. — Mucklow JC, Fraser HS, Bulpitt CJ, Kahn C, Mould G, Dollery CT British journal of clinical pharmacology (1980)
    25. [25]
      Current concepts on the regulation of purine biosynthesis de novo in man. — Kelley WN, Holmes EW, Van der Weyden MB Arthritis and rheumatism (1975)
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