Corticosterone methyloxidase deficiency
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Corticosterone methyloxidase deficiency, also known as aldosterone synthase deficiency, is a disorder characterised by excessive amounts of sodium released in the urine (salt wasting), along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. This imbalance leads to low levels of sodium and high levels of potassium in the blood (hyponatremia and hyperkalemia, respectively). Individuals with corticosterone methyloxidase deficiency can also have high levels of acid in the blood (metabolic acidosis).
Descrição
Corticosterone methyloxidase deficiency, also known as aldosterone synthase deficiency, is a disorder characterised by excessive amounts of sodium released in the urine (salt wasting), along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. This imbalance leads to low levels of sodium and high levels of potassium in the blood (hyponatremia and hyperkalemia, respectively). Individuals with corticosterone methyloxidase deficiency can also have high levels of acid in the blood (metabolic acidosis).
The hyponatremia, hyperkalemia, and metabolic acidosis associated with corticosterone methyloxidase deficiency can cause nausea, vomiting, dehydration, low blood pressure, extreme tiredness (fatigue), and muscle weakness. Affected infants often experience failure to thrive, which means they do not gain weight and grow at the expected rate. Severe cases of corticosterone methyloxidase deficiency can result in seizures and coma and can be life-threatening. However, affected individuals who survive infancy generally have a normal life expectancy, and the signs and symptoms of the disorder typically become milder or disappear by adulthood.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
18-hydroxylase deficiency
18-oxidase deficiency
Aldosterone deficiency
Aldosterone deficiency due to deficiency of steroid 18-hydroxylase
Aldosterone deficiency due to deficiency of steroid 18-oxidase
Aldosterone synthase deficiency
CMO deficiency
Congenital hypoaldosteronism
Corticosterone 18-monooxygenase deficiency
Corticosterone methyl oxidase deficiency
Familial hyperreninemic hypoaldosteronism
Steroid 18-hydroxylase deficiency
Steroid 18-oxidase deficiency
Visser-Cost syndrome
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Leitura adicional e referências
- Corticosterone methyloxidase deficiency; MedlinePlus, National Library of Medicine.
- Leshinsky-Silver E, Landau Z, Unlubay S, Bistrizer T, Zung A, Tenenbaum-Rakover Y, Devries L, Lev D, Hanukoglu A. Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene. Horm Res. 2006;66(2):73-8. doi: 10.1159/000093583. Epub 2006 May 29.
- Lopez-Siguero JP, Garcia-Garcia E, Peter M, Sippell WG. Aldosterone synthase deficiency type I: hormonal and genetic analyses of two cases. Horm Res. 1999;52(6):298-300. doi: 10.1159/000023500.
- Nguyen HH, Hannemann F, Hartmann MF, Malunowicz EM, Wudy SA, Bernhardt R. Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses. Mol Genet Metab. 2010 Aug;100(4):357-64. doi: 10.1016/j.ymgme.2010.04.016. Epub 2010 May 21.
- Peter M, Dubuis JM, Sippell WG. Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies. Horm Res. 1999;51(5):211-22. doi: 10.1159/000023374.
- Peter M, Fawaz L, Drop SL, Visser HK, Sippell WG. Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997. J Clin Endocrinol Metab. 1997 Nov;82(11):3525-8. doi: 10.1210/jcem.82.11.4399.
- Peter M. Congenital hyperreninemic hypoaldosteronism: are there different forms? Horm Res. 2006;66(2):79-80. doi: 10.1159/000093584. Epub 2006 May 29. No abstract available.
- Rosler A, White PC. Mutations in human 11 beta-hydroxylase genes: 11 beta-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran. J Steroid Biochem Mol Biol. 1993 Apr;45(1-3):99-106. doi: 10.1016/0960-0760(93)90128-j.
- White PC. Aldosterone synthase deficiency and related disorders. Mol Cell Endocrinol. 2004 Mar 31;217(1-2):81-7. doi: 10.1016/j.mce.2003.10.013.
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