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congenital methemoglobinemia

 

Definition:

  1. methemoglobinemia due to formation of any one of a group of abnormal a chain [MIM*141800] or ß chain [MIM*141900] hemoglobins collectively known as hemoglobin M. Slate-gray cyanosis occurs in early infancy, without pulmonary or cardiac disease, and is resistant to ascorbic acid or methylene blue therapy; autosomal dominant inheritance;
  2. methemoglobinemia due to deficiency of cytochrome b5 reductase [MIM*250790] or methemoglobin reductase [MIM*250700], the enzyme responsible for reduction of intraerythrocyte methemoglobin; cyanosis is improved by ascorbic acid or methylene blue; autosomal recessive inheritance;

Synonym(s): hereditary methemoglobinemia, hereditary methemoglobinemic cyanosis, primary methemoglobinemia

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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