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… (More)
National Institutes of Health

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6 relations
AnemiaCongenital Hematological DisorderHematopoietic and Lymphoid CellHematopoietic and Lymphoid Tissue

Broader (2)

HemoglobinopathiesMethemoglobinemia

Papers overview

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2014
2014
Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India
We report the clinical features and molecular characterization of 23 patients with cyanosis due to NADH-cytochrome b5 reductase… (More)
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2005
2005
Prophylactic methylene blue in a patient with congenital methemoglobinemia.
PURPOSE To report the beneficial effect of prophylactic methylene blue administration before induction of anesthesia in a patient… (More)
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2000
2000
A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia.
Recessive congenital methemoglobinemia due to nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase (b5R) deficiency… (More)
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1995
1995
Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II.
Recessive congenital methemoglobinemia (RCM) due to NADH-cytochrome b5 reductase (cytb5r) deficiency leads to two different types… (More)
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1994
1994
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… (More)
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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… (More)
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1990
1990
Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.
Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase (b5R) deficiency… (More)
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1974
1974
Methemoglobin reductase (cytochrome b5 reductase) deficiency in congenital methemoglobinemia.
Two NADH diaphorases, diaphorase I and II, were isolated from normal red cells and congenital methemoglobinemic red cells by CM… (More)
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Highly Cited
1962
Highly Cited
1962
The normal human female as a mosaic of X-chromosome activity: studies using the gene for C-6-PD-deficiency as a marker.
The question why human females do not synthesize twice as much of those enzymes controlled by a locus on the X-chromosome as do… (More)
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1949
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… (More)
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