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Pathway Description
Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH
Homo sapiens
Disease Pathway
Congenital Lipoid Adrenal Hyperplasia (CLA),also called steroid 20-22 desmolase deficiency and lipoid CAH, is an autosomal recessive disorder and caused by a defective cholesterol side-chain cleavage enzyme. Cholesterol side-chain cleavage enzyme catalyzes the conversion of cholesterol into 20α-Hydroxycholesterol which is also a substrate of cholesterol side-chain cleavage enzyme. This disorder is characterized by a large accumulation of cholesterol in the mitochondrial. Symptoms of the disorder is not clear. Extra glucocorticoid and mineral replacement could be the potential treatments.
References
Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH References
Bose HS, Sugawara T, Strauss JF 3rd, Miller WL: The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med. 1996 Dec 19;335(25):1870-8. doi: 10.1056/NEJM199612193352503.
Pubmed: 8948562
Degenhart HJ, Visser HK, Boon H, O'Doherty NJ: Evidence for deficient 20 -cholesterol-hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia. Acta Endocrinol (Copenh). 1972 Nov;71(3):512-8. doi: 10.1530/acta.0.0710512.
Pubmed: 4678198
Fox RR, Crary DD: Genetics and pathology of hereditary adrenal hyperplasia in the rabbit: a model for congenital lipoid adrenal hyperplasia. J Hered. 1978 Jul-Aug;69(4):251-4. doi: 10.1093/oxfordjournals.jhered.a108939.
Pubmed: 731013
Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL: Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years. Clin Endocrinol (Oxf). 1985 Nov;23(5):481-93. doi: 10.1111/j.1365-2265.1985.tb01107.x.
Pubmed: 3841304
Kim CJ: Congenital lipoid adrenal hyperplasia. Ann Pediatr Endocrinol Metab. 2014 Dec;19(4):179-83. doi: 10.6065/apem.2014.19.4.179. Epub 2014 Dec 31.
Pubmed: 25654062
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Norman, A.W, and Litwack, G. Hormones (2nd ed.) (1997) San Diego : Academic Press.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
HECHTER O, SOLOMON MM, ZAFFARONI A, PINCUS G: Transformation of cholesterol and acetate to adrenal cortical hormones. Arch Biochem Biophys. 1953 Sep;46(1):201-14. doi: 10.1016/0003-9861(53)90182-9.
Pubmed: 13092959
Luu-The V: Assessment of steroidogenesis and steroidogenic enzyme functions. J Steroid Biochem Mol Biol. 2013 Sep;137:176-82. doi: 10.1016/j.jsbmb.2013.05.017. Epub 2013 Jun 13.
Pubmed: 23770321
George FW, Russell DW, Wilson JD: Feed-forward control of prostate growth: dihydrotestosterone induces expression of its own biosynthetic enzyme, steroid 5 alpha-reductase. Proc Natl Acad Sci U S A. 1991 Sep 15;88(18):8044-7. doi: 10.1073/pnas.88.18.8044.
Pubmed: 1654556
Andersson S, Berman DM, Jenkins EP, Russell DW: Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. Nature. 1991 Nov 14;354(6349):159-61. doi: 10.1038/354159a0.
Pubmed: 1944596
Emanuelsson I, Almokhtar M, Wikvall K, Gronbladh A, Nylander E, Svensson AL, Fex Svenningsen A, Norlin M: Expression and regulation of CYP17A1 and 3beta-hydroxysteroid dehydrogenase in cells of the nervous system: Potential effects of vitamin D on brain steroidogenesis. Neurochem Int. 2018 Feb;113:46-55. doi: 10.1016/j.neuint.2017.11.007. Epub 2017 Nov 21.
Pubmed: 29162485
Kimoto T, Asou H, Ohta Y, Mukai H, Chernogolov AA, Kawato S: Digital fluorescence imaging of elementary steps of neurosteroid synthesis in rat brain glial cells. J Pharm Biomed Anal. 1997 Jun;15(9-10):1231-40. doi: 10.1016/s0731-7085(96)01987-5.
Pubmed: 9226548
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