Inborn errors of steroid metabolism - Wikipedia
An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.[citation needed] A ... Inborn error of metabolism Disorders of sex development Congenital adrenal hyperplasia Adrenal insufficiency Hypogonadism ( ... Cholesterol and steroid metabolism disorders, Endocrine gonad disorders, Genetic diseases and disorders, Rare diseases, ... Sex steroid (androgen, estrogen, and progestogen) Neuroactive steroid Hypothalamus and pituitary gland Adrenal cortex and gonad ...
Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid...
3beta-HSDH deficiency is a rare inborn error of metabolism with diverse clinical features. Early replacement treatment leads to ... Clinical features of a Chinese infant with inborn error of bile acid metabolism-3β-hydroxy-Δ(5)-C27-steroid dehydrogenase ... Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid ... Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid ...
Estradiol: Reference Range, Interpretation, Collection and Panels
Inborn errors of sex steroid metabolism. * Puberty disorders. * Estrogen deficiency in men ... Abnormalities in the production of other steroids. Abnormalities in the production of other steroids, particularly those that ... are usually associated with inherited disorders of sex steroid metabolism. ... Elevations of estradiol or estrone alone suggest pseudo-precocious puberty, possibly caused by a sex steroid-producing tumor. [ ...
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Estradiol: Reference Range, Interpretation, Collection and Panels
Inborn errors of sex steroid metabolism. * Puberty disorders. * Estrogen deficiency in men ... Abnormalities in the production of other steroids. Abnormalities in the production of other steroids, particularly those that ... are usually associated with inherited disorders of sex steroid metabolism. ... Elevations of estradiol or estrone alone suggest pseudo-precocious puberty, possibly caused by a sex steroid-producing tumor. [ ...
Ichthyosis, X Linked - Symptoms, Causes, Treatment | NORD
It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. Under normal conditions, ... If steroid metabolism is interrupted and cholesterol sulfate accumulates in the skin cells, the skin cells stick together more ... this enzyme breaks down (metabolizes) cholesterol sulfate, a member of the chemical family of steroids. Cholesterol sulfate ... of an abnormally large number of epidermal cells into squamous cells is thought to be caused by a defect in the metabolism of ...
Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders -...
Steroid Metabolism, Inborn Errors / metabolism Actions. * Search in PubMed * Search in MeSH ... Mechanisms of disease: inborn errors of bile acid synthesis. Nat Clin Pract Gastroenterol Hepatol 2008; 5:456-468. - PMC - ... Open-label Phase 3 Continuation Study of Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis. Heubi JE, Setchell ... Oral bile acid therapy in the treatment of inborn errors in bile acid synthesis associated with liver disease. Bile Acids as ...
HSD3B7 gene: MedlinePlus Genetics
Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid ... hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ... J Steroid Biochem Mol Biol. 2014 Oct;144 Pt B:348-60. doi: 10.1016/j.jsbmb.2014.06.008. Epub 2014 Jun 19. Citation on PubMed ... Synthesis of atypical bile acids for use as investigative tools for the genetic defect of 3beta-hydroxy-Delta(5)-C27-steroid ...
Publication Detail
Metabolism, Inborn Errors/enzymology; Metabolism, Inborn Errors/genetics*; Mutation/genetics ... cholesterol metabolism and bile-acid biosynthesis; steroid synthesis and metabolism; vitamin D(3) synthesis and metabolism; ... Mutations in many CYP genes cause inborn errors of metabolism and contribute to many clinically relevant diseases. ... These genes code for enzymes that can have a role in: metabolism of drugs, foreign chemicals, arachidonic acid and eicosanoids ...
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Hyperkalemia: Practice Essentials, Background, Pathophysiology
Inborn errors of adrenal steroidogenesis. Mol Cell Endocrinol. 2003. 211:75-83. [QxMD MEDLINE Link]. ... Disorders of steroid metabolism and mineralocorticoid receptors. 21-hydroxylase deficiency in its classic form and aldosterone ... The effects of epsilon amino-caproic acid upon potassium metabolism in the dog. Metabolism. 1966 May. 15(5):449-57. [QxMD ... Lorenz JM, Kleinman LI, Markarian K. Potassium metabolism in extremely low birth weight infants in the first week of life. J ...
DeCS
Steroid Metabolism, Inborn Errors Entry term(s). Congenital Errors of Steroid Metabolism Inborn Errors of Steroid Metabolism ... Congenital Errors of Steroid Metabolism. Inborn Errors of Steroid Metabolism. Steroid Metabolic Diseases, Inborn. ... Steroid Metabolism, Inborn Errors - Preferred Concept UI. M0442596. Scope note. Errors in metabolic processing of STEROIDS ... Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.. ...
MeSH Browser
Congenital Errors of Steroid Metabolism Inborn Errors of Steroid Metabolism Steroid Metabolic Diseases, Inborn Public MeSH Note ... Genetic Diseases, Inborn [C16.320] * Metabolism, Inborn Errors [C16.320.565] * Amino Acid Metabolism, Inborn Errors [C16.320. ... Renal Tubular Transport, Inborn Errors [C16.320.565.893] * Steroid Metabolism, Inborn Errors [C16.320.565.925] * Adrenal ... Renal Tubular Transport, Inborn Errors [C18.452.648.893] * Steroid Metabolism, Inborn Errors [C18.452.648.925] * Adrenal ...
MeSH Browser
Congenital Errors of Steroid Metabolism Inborn Errors of Steroid Metabolism Steroid Metabolic Diseases, Inborn Public MeSH Note ... Genetic Diseases, Inborn [C16.320] * Metabolism, Inborn Errors [C16.320.565] * Amino Acid Metabolism, Inborn Errors [C16.320. ... Renal Tubular Transport, Inborn Errors [C16.320.565.893] * Steroid Metabolism, Inborn Errors [C16.320.565.925] * Adrenal ... Renal Tubular Transport, Inborn Errors [C18.452.648.893] * Steroid Metabolism, Inborn Errors [C18.452.648.925] * Adrenal ...
Estradiol: Reference Range, Interpretation, Collection and Panels
Inborn errors of sex steroid metabolism. * Puberty disorders. * Estrogen deficiency in men ... Abnormalities in the production of other steroids. Abnormalities in the production of other steroids, particularly those that ... are usually associated with inherited disorders of sex steroid metabolism. ... Elevations of estradiol or estrone alone suggest pseudo-precocious puberty, possibly caused by a sex steroid-producing tumor. [ ...
Antley-Bixler Syndrome Phenotype | Profiles RNS
DeCS 2004 - Novos termos
Steroid Metabolism, Inborn Errors. Errores Congénitos del Metabolismo Esteroideo. Hipoglicemia Hiperinsulinêmica Persistente da ... Glucose Metabolism Disorders. Trastornos del Metabolismo de la Glucosa. C23 - Condições Patológicas, Sinais e Sintomas. ... Estrogenic Steroids, Alkylated. Esteroides Estrogénicos Alquilados. Estrogênios Esterificados (USP). Estrogens, Esterified (USP ...
NEW (2004) MESH HEADINGS WITH SCOPE NOTES (UNIT RECORD FORMAT; 10/2/2003
Steroid Metabolism, Inborn Errors UI - D043202 MN - C16.320.565.925 MN - C18.452.648.925 MS - Errors in metabolic processing of ... An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal ... including both steroid and peptide hormones. The major steroid hormones include ESTRADIOL and PROGESTERONE from the OVARY, and ... STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero. AN - coord IM with specific steriod/ ...
P
Advancements in Pediatric Pathology & Laboratory Medicine | Department of Pathology | Stanford Medicine
Pesquisa | Portal Regional da BVS
Bile acids are a category of steroids biosynthesized from cholesterol in the liver. Inborn errors of their metabolism are ... Inborn metabolic diseases or inborn errors of metabolism comprise a large number of rare and heterogeneous genetic diseases ... Inborn errors of metabolism are genetic disorders caused by a block in a metabolic pathway, affecting both humans and animals. ... Inborn errors of metabolism (IEM) constitute a huge group of rare diseases affecting 1 in every 1000 newborns. Next-generation ...
Rhabdomyolysis
Chronic serum CK elevation (eg, from inborn errors of metabolism or mitochondrial myopathy) - In rhabdomyolysis, there will be ... Steroid myopathy. *Normal postexertion myalgias. *Myalgias from viral infection without presence of significant muscle ... inborn errors of metabolism, muscular dystrophies). A triggering event is not always identifiable.. During muscle necrosis, ...
DeCS 2004 - Novos termos
Steroid Metabolism, Inborn Errors. Errores Congénitos del Metabolismo Esteroideo. Hipoglicemia Hiperinsulinêmica Persistente da ... Glucose Metabolism Disorders. Trastornos del Metabolismo de la Glucosa. C23 - Condições Patológicas, Sinais e Sintomas. ... Estrogenic Steroids, Alkylated. Esteroides Estrogénicos Alquilados. Estrogênios Esterificados (USP). Estrogens, Esterified (USP ...
DeCS 2004 - Novos termos
Steroid Metabolism, Inborn Errors. Errores Congénitos del Metabolismo Esteroideo. Hipoglicemia Hiperinsulinêmica Persistente da ... Glucose Metabolism Disorders. Trastornos del Metabolismo de la Glucosa. C23 - Condições Patológicas, Sinais e Sintomas. ... Estrogenic Steroids, Alkylated. Esteroides Estrogénicos Alquilados. Estrogênios Esterificados (USP). Estrogens, Esterified (USP ...
DeCS 2004 - Novos termos
Steroid Metabolism, Inborn Errors. Errores Congénitos del Metabolismo Esteroideo. Hipoglicemia Hiperinsulinêmica Persistente da ... Glucose Metabolism Disorders. Trastornos del Metabolismo de la Glucosa. C23 - Condições Patológicas, Sinais e Sintomas. ... Estrogenic Steroids, Alkylated. Esteroides Estrogénicos Alquilados. Estrogênios Esterificados (USP). Estrogens, Esterified (USP ...
DeCS 2004 - Novos termos
Steroid Metabolism, Inborn Errors. Errores Congénitos del Metabolismo Esteroideo. Hipoglicemia Hiperinsulinêmica Persistente da ... Glucose Metabolism Disorders. Trastornos del Metabolismo de la Glucosa. C23 - Condições Patológicas, Sinais e Sintomas. ... Estrogenic Steroids, Alkylated. Esteroides Estrogénicos Alquilados. Estrogênios Esterificados (USP). Estrogens, Esterified (USP ...
DeCS 2004 - New terms
Steroid Metabolism, Inborn Errors. Erros Inatos do Metabolismo de Esteróides. Errores Congénitos del Metabolismo Esteroideo. ... G06 - Biochemical Phenomena, Metabolism, and Nutrition. F-Box Motifs. Motivos F-Box. Secuencias F-Box. ... Glucose Metabolism Disorders. Transtornos do Metabolismo de Glucose. Trastornos del Metabolismo de la Glucosa. ... Estrogenic Steroids, Alkylated. Esteróides Estrogênicos Alquilados. Esteroides Estrogénicos Alquilados. Estrogens, Esterified ( ...
DeCS 2004 - New terms
Steroid Metabolism, Inborn Errors. Erros Inatos do Metabolismo de Esteróides. Errores Congénitos del Metabolismo Esteroideo. ... G06 - Biochemical Phenomena, Metabolism, and Nutrition. F-Box Motifs. Motivos F-Box. Secuencias F-Box. ... Glucose Metabolism Disorders. Transtornos do Metabolismo de Glucose. Trastornos del Metabolismo de la Glucosa. ... Estrogenic Steroids, Alkylated. Esteróides Estrogênicos Alquilados. Esteroides Estrogénicos Alquilados. Estrogens, Esterified ( ...
DeCS 2004 - New terms
Steroid Metabolism, Inborn Errors. Erros Inatos do Metabolismo de Esteróides. Errores Congénitos del Metabolismo Esteroideo. ... G06 - Biochemical Phenomena, Metabolism, and Nutrition. F-Box Motifs. Motivos F-Box. Secuencias F-Box. ... Glucose Metabolism Disorders. Transtornos do Metabolismo de Glucose. Trastornos del Metabolismo de la Glucosa. ... Estrogenic Steroids, Alkylated. Esteróides Estrogênicos Alquilados. Esteroides Estrogénicos Alquilados. Estrogens, Esterified ( ...