Corticosterone methyloxidase deficiency
עודכן לאחרונה 2 אוק 2024
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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).
תיאור
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.
Inheritance patterns
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
Related patient information and medicines
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האם אני יכול לקחת ויטמין B12 וויטמין C יחד?
למה זה קורה ויטמין C מטופל? an antioxidant that can chemically break down Vitamin B12 in the digestive tract, making the B12 inactive and harder for the body to absorb. Our בודק אינטראקציות בין תרופות helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search... Disclaimer.
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האם אני יכול לקחת קומפלקס ויטמין B וויטמין C יחד?
It is best to take your vitamins with water rather than tea or coffee. Using other medicines Taking multiple medicines. Our Medicines Interaction Checker helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search for your medicines to see potential interactions and what to do.
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חוסר בוויטמין C
ויטמין C cannot be made by the human body and so is an essential component of the diet. It is needed for the health and repair of various tissues in the body, including skin, bone, teeth and cartilage. Persistent lack of dietary vitamin C in can lead to a condition called scurvy. Symptoms of scurvy include easy bruising, easy bleeding and joint.
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האם אני יכול לקחת ויטמין B2 וויטמין C יחד?
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תת-ספיגה במערכת העיכול
Gastrointestinal malabsorption syndrome means a failure to fully absorb digested foods from the gut (bowel) into your body. There are many different causes. Prolonged intestinal malabsorption may cause problems because of a lack of carbohydrates, proteins, fats, minerals and vitamins that are essential to keep you healthy. The treatment will.
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האם אני יכול לקחת ויטמין C וויטמין D יחד?
Taking it on an empty stomach may reduce its effectiveness. Using other medicines Taking multiple medicines. Our Medicines Interaction Checker helps אתה check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search for your medicines to see potential interactions and what to do about them..
קריאה נוספת והפניות
- 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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