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Congenital Methemoglobinemia

Known as: hemoglobin m disease, hereditary methemoglobinemia 
Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence… Expand
National Institutes of Health

Related topics

Related topics

6 relations
AnemiaCongenital Hematological DisorderHematopoietic and Lymphoid CellHematopoietic and Lymphoid Tissue

Broader (2)

HemoglobinopathiesMethemoglobinemia

Papers overview

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Highly Cited
2004
Highly Cited
2004
NADH Cytochrome b5 Reductase and Cytochrome b5 Catalyze the Microsomal Reduction of Xenobiotic Hydroxylamines and Amidoximes in Humans
Hydroxylamine metabolites, implicated in dose-dependent and idiosyncratic toxicity from arylamine drugs, and amidoximes, used as… Expand
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Highly Cited
2004
Highly Cited
2004
A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism
We have analyzed reticulocyte and leukocyte mRNAs isolated from a patient with congenital methemoglobinemia and… Expand
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1995
1995
A novel point mutation in a 3' splice site of the NADH-cytochrome b5 reductase gene results in immunologically undetectable enzyme and impaired NADH-dependent ascorbate regeneration in cultured…
Hereditary methemoglobinemia with generalized deficiency of NADH-cytochrome b5 reductase (b5R) (type II) is a rare disease… Expand
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1994
1994
An in-frame deletion of codon 298 of the NADH-cytochrome b5 reductase gene results in hereditary methemoglobinemia type II (generalized type). A functional implication for the role of the COOH…
The nucleotide sequence was determined for the gene of NADH-cytochrome b5 reductase of a patient of type II hereditary… Expand
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Highly Cited
1992
Highly Cited
1992
Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type).
Nucleotide substitutions in the gene for NADH-cytochrome b5 reductase were identified in three independent probands of hereditary… Expand
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1991
1991
Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency.
We analyzed the NADH-cytochrome b5 reductase gene of hereditary methemoglobinemia type I and type III, by using PCR-related… Expand
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Highly Cited
1986
Highly Cited
1986
Congenital methemoglobinemia with a deficiency of cytochrome b5.
IT is generally accepted that red cells possess enzymatic reducing mechanisms that maintain hemoglobin in its active state.1 , 2… Expand
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Highly Cited
1967
Highly Cited
1967
Electrophoresis of red cell NADH- and NADPH-diaphorases in normal subjects and patients with congenital methemoglobinemia.
Abstract Erythrocyte NADH-and NADPH-diaphorases (so-called methemoglobin reductases) have been shown to be different enzymes. A… Expand
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Highly Cited
1959
Highly Cited
1959
The enzymic defect of hereditary methemoglobinemia: diaphorase.
 
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Highly Cited
1949
Highly Cited
1949
CONGENITAL METHEMOGLOBINEMIA. A CLINICAL AND BIOCHEMICAL STUDY OF A CASE.
Congenital methemoglobinemia is an unusual condition in which a large amount of intracellular hemoglobin exists as methemoglobin… Expand
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