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What is Tetrahydrobiopterin deficiencies?

What is Tetrahydrobiopterin deficiencies?

  • Tetrahydrobiopterin deficiencies: A rare genetic disorder where insufficient levels of tetrahydropterin leads to a build up of phenylalanine in the blood which can cause toxic side effects such as nerve damage or even brain damage. The condition does not usually cause any significant symptoms.

Tetrahydrobiopterin deficiencies is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Tetrahydrobiopterin deficiencies, or a subtype of Tetrahydrobiopterin deficiencies, 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 Tetrahydrobiopterin deficiencies as a "rare disease".
Source - Orphanet

Tetrahydrobiopterin deficiencies: Introduction

Types of Tetrahydrobiopterin deficiencies:

Broader types of Tetrahydrobiopterin deficiencies:

How serious is Tetrahydrobiopterin deficiencies?

Complications of Tetrahydrobiopterin deficiencies: see complications of Tetrahydrobiopterin deficiencies

What causes Tetrahydrobiopterin deficiencies?

Causes of Tetrahydrobiopterin deficiencies: see causes of Tetrahydrobiopterin deficiencies

What are the symptoms of Tetrahydrobiopterin deficiencies?

Symptoms of Tetrahydrobiopterin deficiencies: see symptoms of Tetrahydrobiopterin deficiencies

Complications of Tetrahydrobiopterin deficiencies: see complications of Tetrahydrobiopterin deficiencies

Tetrahydrobiopterin deficiencies: Testing

Diagnostic testing: see tests for Tetrahydrobiopterin deficiencies.

Misdiagnosis: see misdiagnosis and Tetrahydrobiopterin deficiencies.

How is it treated?

Doctors and Medical Specialists for Tetrahydrobiopterin deficiencies: Medical Geneticist ; see also doctors and medical specialists for Tetrahydrobiopterin deficiencies.
Treatments for Tetrahydrobiopterin deficiencies: see treatments for Tetrahydrobiopterin deficiencies

Name and Aliases of Tetrahydrobiopterin deficiencies

Main name of condition: Tetrahydrobiopterin deficiencies

Other names or spellings for Tetrahydrobiopterin deficiencies:

Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency, 6-pyruvoyl-tetrahydropterin synthase deficiency, Phenylketonurias

6-pyruvoyl-tetrahydropterin synthase deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)


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