Learn About Autosomal Recessive Congenital Methemoglobinemia

What is the definition of Autosomal Recessive Congenital Methemoglobinemia?

Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. In people with autosomal recessive congenital methemoglobinemia, some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, which is unable to deliver oxygen to the body's tissues. As a result, tissues in the body become oxygen deprived, leading to a bluish appearance of the skin, lips, and nails (cyanosis).

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What are the causes of Autosomal Recessive Congenital Methemoglobinemia?

Autosomal recessive congenital methemoglobinemia is caused by mutations in the CYB5R3 gene. This gene provides instruction for making an enzyme called cytochrome b5 reductase 3. This enzyme is involved in transferring negatively charged particles called electrons from one molecule to another. Two versions (isoforms) of this enzyme are produced from the CYB5R3 gene. The soluble isoform is present only in red blood cells, and the membrane-bound isoform is found in all other cell types.

How prevalent is Autosomal Recessive Congenital Methemoglobinemia?

The incidence of autosomal recessive congenital methemoglobinemia is unknown.

Is Autosomal Recessive Congenital Methemoglobinemia an inherited disorder?

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.

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Who are the sources who wrote this article ?

Published Date: May 01, 2015Published By: National Institutes of Health

What are the Latest Advances for Autosomal Recessive Congenital Methemoglobinemia?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.