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What is NADH cytochrome B5 reductase deficiency?

What is NADH cytochrome B5 reductase deficiency?

  • NADH cytochrome B5 reductase deficiency: A very rare syndrome caused by a genetic anomaly resulting in an enzyme deficiency (NADH cytochrome B5 reductase).

NADH cytochrome B5 reductase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that NADH cytochrome B5 reductase deficiency, or a subtype of NADH cytochrome B5 reductase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list NADH cytochrome B5 reductase deficiency as a "rare disease".
Source - Orphanet

NADH cytochrome B5 reductase deficiency: Introduction

Types of NADH cytochrome B5 reductase deficiency:

Broader types of NADH cytochrome B5 reductase deficiency:

How serious is NADH cytochrome B5 reductase deficiency?

Complications of NADH cytochrome B5 reductase deficiency: see complications of NADH cytochrome B5 reductase deficiency

What causes NADH cytochrome B5 reductase deficiency?

Causes of NADH cytochrome B5 reductase deficiency: see causes of NADH cytochrome B5 reductase deficiency

What are the symptoms of NADH cytochrome B5 reductase deficiency?

Symptoms of NADH cytochrome B5 reductase deficiency: see symptoms of NADH cytochrome B5 reductase deficiency

Complications of NADH cytochrome B5 reductase deficiency: see complications of NADH cytochrome B5 reductase deficiency

NADH cytochrome B5 reductase deficiency: Testing

Misdiagnosis: see misdiagnosis and NADH cytochrome B5 reductase deficiency.

How is it treated?

Doctors and Medical Specialists for NADH cytochrome B5 reductase deficiency: Medical Geneticist ; see also doctors and medical specialists for NADH cytochrome B5 reductase deficiency.
Treatments for NADH cytochrome B5 reductase deficiency: see treatments for NADH cytochrome B5 reductase deficiency

Name and Aliases of NADH cytochrome B5 reductase deficiency

Main name of condition: NADH cytochrome B5 reductase deficiency

Other names or spellings for NADH cytochrome B5 reductase deficiency:

hereditary methemoglobinemia, recessive, NADH diaphorase deficiency, NADH methemoblogin reductase deficiency, Methemoglobinemia due to deficiency of methemoglobin reductase, NADH-dependent methemoglobin reductase deficiency, Diaphorase deficiency, NADH methemoglobin reductase deficiency

Diaphorase deficiency, Methemoglobinemia due to deficiency of methemoglobin reductase, NADH diaphorase deficiency, NADH methemoglobin reductase deficiency, NADH-dependent methemoglobin reductase deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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