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Retinol Metabolism
smpdb.ca/view/SMP0000074MetabolicRetinol is part of the vitamin A family, and is known as vitamin A1, and in a dietary context it is a type of preformed vitamin A. As with other preformed vitamin A's, it can be obtained from animal sources, with the highest concentratio...
Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH
smpdb.ca/view/SMP0000371DiseaseCongenital 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 cleava...
Corticosterone Methyl Oxidase I Deficiency (CMO I)
smpdb.ca/view/SMP0000577DiseaseCorticosterone methyloxidase type I (CMO-I) deficiency, also known as 18-hydroxylase deficiency or aldosterone deficiency among other names, is a genetic disorder that is autosomally linked and caused by a defective CYP11B2 gene. This ge...
Apparent Mineralocorticoid Excess Syndrome
smpdb.ca/view/SMP0000717DiseaseApparent mineralocorticoid excess (AME), also known as cortisol 11-beta-ketoreductase deficiency, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by a mu...
Immunometabolism Pathway (Bacterial Activation)
smpdb.ca/view/SMP0125484DiseaseThe normal response to a bacterial infection involves bacteria activateing the Toll-like receptor TLR4 on the membranes of macrophages, T-cells and dendritic cells. TLR4 activates the production of interferon regulatory factor 3 (IRF3), ...
Anti-inflammatory pathway
smpdb.ca/view/SMP0125485DiseaseAs the bacteria are cleared, tryptophan levels continue to drop as the indole dioxygenase (IDO) enzyme becomes more active. IDO activation results in the generation (from tryptophan) of kynurenine (and its other metabolites) through a se...
Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH
smpdb.ca/view/SMP0125798DiseaseCongenital 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 cleava...
Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia Due to 17 alpha-Hydroxylase Deficiency
smpdb.ca/view/SMP0125799DiseaseAdrenal hyperplasia type 5 (AH5) also known as Congenital Adrenal Hyperplasia Due to 17 alpha-Hydroxylase Deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of cortisol and sex steroids synthesis cause...
11-beta-Hydroxylase Deficiency (CYP11B1)
smpdb.ca/view/SMP0125800Disease11-beta-Hydroxylase Deficiency, also called congenital adrenal hyperplasia (CAH), is an autosomal recessive disorder and caused by a defective 11-beta-hydroxylase. 11-beta-hydroxylase catalyzes the conversion of cortexolone into cortisol...
Corticosterone Methyl Oxidase II Deficiency (CMO II)
smpdb.ca/view/SMP0125802DiseaseCorticosterone methyloxidase type II (CMO-II) deficiency, also called 18-oxidase defiency or aldosterone deficiency II among other names, is a genetic disorder that is autosomally linked. It is caused by a mutation in the cytochrome P450...