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).
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.
The incidence of autosomal recessive congenital methemoglobinemia is unknown.
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.
Prabhakar Kedar is in Mumbai, India. Kedar is rated as an Elite expert by MediFind in the treatment of Autosomal Recessive Congenital Methemoglobinemia. They are also highly rated in 18 other conditions, according to our data. Their top areas of expertise are Hereditary Methemoglobinemia, Autosomal Recessive Congenital Methemoglobinemia, Methemoglobinemia, and Glucose Phosphate Isomerase Deficiency.
Prashant Warang is in Mumbai, India. Warang is rated as a Distinguished expert by MediFind in the treatment of Autosomal Recessive Congenital Methemoglobinemia. He is also highly rated in 14 other conditions, according to our data. His top areas of expertise are Methemoglobinemia, Hereditary Methemoglobinemia, Autosomal Recessive Congenital Methemoglobinemia, and Hemolytic Anemia.
Roshan Colah is in Mumbai, India. Colah is rated as a Distinguished expert by MediFind in the treatment of Autosomal Recessive Congenital Methemoglobinemia. They are also highly rated in 20 other conditions, according to our data. Their top areas of expertise are Beta Thalassemia, Thalassemia, Hemoglobinopathy, and Congenital Hemolytic Anemia.
Published Date: May 01, 2015Published By: National Institutes of Health
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