Methemoglobinemia Due to Deficiency of Methemoglobin Reductase (METHB-CYB5R3)

Alias:

Methemoglobinemia, Type I

Nadh-Cytochrome B5 Reductase Deficiency

Deficiency of Cytochrome-B5 Reductase

Nadh-Dependent Methemoglobin Reductase Deficiency

Methemoglobinemia Type 2

Congenital Methemoglobinemia Due to Nadh-Cytochrome B5 Reductase 3 Deficiency

Chronic Familial Methemoglobin Reductase Deficiency

Methemoglobinemia, Congenital, Autosomal Recessive

Congenital Nadh-Methemoglobin Reductase Deficiency

Autosomal Recessive Congenital Methemoglobinemia

Methemoglobinemia Congenital Autosomal Recessive

Nadh-Cytochrome B5 Reductase Deficiency Type Ii

Nadh-Cytochrome B5 Reductase Deficiency Type I

Nadh Cytochrome B5 Reductase Deficiency

Cytochrome B5 Reductase Deficiency

Methemoglobinemia Cyb5r3-Related

Methemoglobinemia, Type Ii

Methemoglobinemia Type Ii

Methemoglobinemia Type I

Diaphorase Deficiency

Nadh-Cyb5r Deficiency

Methemoglobinemia

Methb-Cyb5r3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Methemoglobinemia Due to Deficiency of Methemoglobin Reductase, also known as methemoglobinemia, type i, is related to methemoglobinemia and ambiguous genitalia and pyruvate dehydrogenase e3-binding protein deficiency, and has symptoms including ataxia, cyanosis and headache. An important gene associated with Methemoglobinemia Due to Deficiency of Methemoglobin Reductase is CYB5R3 (Cytochrome B5 Reductase 3). The drugs Methylene blue and Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are intellectual disability and global developmental delay

Related ID：

MALACARDS：MTH026

OMIM：250800

MESH：D008708