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Pathway Description
Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
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
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Pubmed: 25654062
Steroidogenesis References
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Pubmed: 2914938
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Pubmed: 14528024
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000371
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