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Inborn errors of steroid metabolism information


Inborn error of steroid metabolism
Steroidogenesis
SpecialtyMedical genetics, endocrinology Edit this on Wikidata

An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.[citation needed]

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Inborn errors of steroid metabolism

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inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.[citation needed] A variety of conditions of...

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Inborn errors of metabolism

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Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects...

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Carbohydrate metabolism

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malabsorption Galactosemia Glycogen storage disease Biology portal Inborn errors of carbohydrate metabolism Hitting the wall (glycogen depletion) Second wind (increased...

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Steroidogenic enzyme

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Steroid sulfatase – steroid synthesis, neurosteroid metabolism Others Aromatase (estrogen synthetase) – estrogen synthesis Inborn errors of steroid metabolism...

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Hirsutism

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hyperplasia due to pituitary adenomas (as in Cushing's disease). Inborn errors of steroid metabolism such as in congenital adrenal hyperplasia, most commonly...

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Metabolism

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rate of heat flow Inborn errors of metabolism – Class of genetic diseases Iron–sulfur world hypothesis – Hypothetical scenario for the origin of life...

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Lipid metabolism

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and accumulation in adipose tissue. Lipid metabolism disorders (including inborn errors of lipid metabolism) are illnesses where trouble occurs in breaking...

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Glucocorticoid remediable aldosteronism

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spironolactone and eplerenone have been used in treatment. Inborn errors of steroid metabolism Hyperaldosteronism Pseudohyperaldosteronism Apparent mineralocorticoid...

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Hypoestrogenism

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levels of gonadotropins may be low. Other causes include certain medications, gonadotropin insensitivity, inborn errors of steroid metabolism (for example...

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Generalized glucocorticoid resistance

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reduces the production of more adrenal steroids that have androgenic and mineralocorticoid properties. High dosages of synthetic glucocorticoids that spare...

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Aromatase excess syndrome

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estrogen deficiency Disorders of sex development Estrogen insensitivity syndrome Hyperestrogenism Inborn errors of steroid metabolism Shozu, Makio; Fukami, Maki;...

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Fatty acid metabolism

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acquired. Familial types of disorders of fatty acid metabolism are generally classified as inborn errors of lipid metabolism. These disorders may be described...

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Aromatase deficiency

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Congenital estrogen deficiency Disorders of sex development Estrogen insensitivity syndrome Inborn errors of steroid metabolism Cytochrome P450 oxidoreductase deficiency...

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Apparent mineralocorticoid excess syndrome

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Cessation of licorice consumption will reverse this form of AME. Inborn errors of steroid metabolism 11β-Hydroxylase I deficiency Hyperaldosteronism...

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Hypoglycemia

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deficiency, tumors such as insulinomas or non-B cell tumors, inborn errors of metabolism, and several medications. Low blood sugar may occur in otherwise...

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Leydig cell hypoplasia

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insensitivity Gonadotropin-releasing hormone insensitivity Inborn errors of steroid metabolism Isolated 17,20-lyase deficiency Combined 17α-hydroxylase/17...

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Fructolysis

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0.05 The lack of two important enzymes in fructose metabolism results in the development of two inborn errors in carbohydrate metabolism – essential fructosuria...

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Urea cycle

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"Chapter 5: Urea cycle and other disorders of hyperammonemia", Biomarkers in Inborn Errors of Metabolism, San Diego: Elsevier, pp. 103–123, doi:10...

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Sarcosine

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patients with cobalamin and folate deficiency and related inborn errors of metabolism". Metabolism. 42 (11): 1448–60. doi:10.1016/0026-0495(93)90198-W. PMID 7694037...

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Propofol infusion syndrome

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carbohydrate intake, inborn errors of mitochondrial fatty acid oxidation, and concomitant catecholamine infusion or steroid therapy. Characteristics of PRIS include...

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