Corticosterone Methyloxidase Deficiency

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Nicole Yin	+ 529 word(s)	529	2020-12-15 07:20:57

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency

Corticosterone methyloxidase deficiency, also known as aldosterone synthase deficiency, is a disorder characterized 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).

genetic conditions

1. Introduction

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.

2. Frequency

Corticosterone methyloxidase deficiency is a rare disorder; its prevalence is unknown. Researchers have described two types of the condition: Type I is more common in the Amish population of Lancaster, Pennsylvania, while type II is more common in people of Iranian Jewish ancestry. The two types have similar signs and symptoms but can be distinguished by laboratory testing.

3. Causes

Mutations in the CYP11B2 gene cause corticosterone methyloxidase deficiency. This gene provides instructions for making an enzyme called aldosterone synthase. The aldosterone synthase enzyme is found in the adrenal glands, which are located on top of the kidneys.

Aldosterone synthase helps produce a hormone called aldosterone. Aldosterone regulates blood pressure by maintaining proper salt and fluid levels in the body. The aldosterone synthase enzyme is involved in a series of three chemical reactions that produce aldosterone from other (precursor) molecules: the conversion of 11-deoxycorticosterone to corticosterone, the conversion of corticosterone to 18-hydroxycorticosterone, and the conversion of 18-hydroxycorticosterone to aldosterone.

The CYP11B2 gene mutations that cause corticosterone methyloxidase deficiency lead to insufficient production of aldosterone, which impairs the kidneys' ability to reabsorb salt (sodium chloride or NaCl) into the blood and release potassium in the urine. As a result, excessive amounts of salt in the form of charged atoms (ions) of sodium (Na⁺) and chlorine (Cl^-) leave the body in the urine, while not enough potassium is released. The resulting imbalance of ions in the body underlies the signs and symptoms of corticosterone methyloxidase deficiency.

4. Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

5. Other Names for This Condition

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

References

Leshinsky-Silver E, Landau Z, Unlubay S, Bistrizer T, Zung A,Tenenbaum-Rakover Y, Devries L, Lev D, Hanukoglu A. Congenital hyperreninemichypoaldosteronism in Israel: sequence analysis of CYP11B2 gene. Horm Res.2006;66(2):73-8.
López-Siguero JP, García-García E, Peter M, Sippell WG. Aldosterone synthasedeficiency type I: hormonal and genetic analyses of two cases. Horm Res.1999;52(6):298-300.
Nguyen HH, Hannemann F, Hartmann MF, Malunowicz EM, Wudy SA, Bernhardt R. Fivenovel mutations in CYP11B2 gene detected in patients with aldosterone synthasedeficiency type I: Functional characterization and structural analyses. Mol GenetMetab. 2010 Aug;100(4):357-64. doi: 10.1016/j.ymgme.2010.04.016.
Peter M, Dubuis JM, Sippell WG. Disorders of the aldosterone synthase andsteroid 11beta-hydroxylase deficiencies. Horm Res. 1999;51(5):211-22. Review.
Peter M, Fawaz L, Drop SL, Visser HK, Sippell WG. Hereditary defect inbiosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997. J ClinEndocrinol Metab. 1997 Nov;82(11):3525-8.
Peter M. Congenital hyperreninemic hypoaldosteronism: are there differentforms? Horm Res. 2006;66(2):79-80.
Rösler A, White PC. Mutations in human 11 beta-hydroxylase genes: 11beta-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran. J Steroid Biochem Mol Biol. 1993Apr;45(1-3):99-106. Review.
White PC. Aldosterone synthase deficiency and related disorders. Mol CellEndocrinol. 2004 Mar 31;217(1-2):81-7. Review.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

Subjects: Genetics & Heredity

Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :

Nicole Yin

View Times: 351

Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

Video Upload Options

Confirm

1. Introduction

2. Frequency

3. Causes

4. Inheritance

5. Other Names for This Condition

References

Video Upload Options

Confirm

1. Introduction

2. Frequency

3. Causes

3.1. The Gene Associated with Corticosterone Methyloxidase Deficiency

4. Inheritance

5. Other Names for This Condition

References