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6-pyruvoyl-tetrahydropterin synthase deficiency

6-pyruvoyl-tetrahydropterin synthase deficiency: Introduction

6-pyruvoyl-tetrahydropterin synthase deficiency: 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. More detailed information about the symptoms, causes, and treatments of 6-pyruvoyl-tetrahydropterin synthase deficiency is available below.

Symptoms of 6-pyruvoyl-tetrahydropterin synthase deficiency

Wrongly Diagnosed with 6-pyruvoyl-tetrahydropterin synthase deficiency?

6-pyruvoyl-tetrahydropterin synthase deficiency: Complications

Review possible medical complications related to 6-pyruvoyl-tetrahydropterin synthase deficiency:

Causes of 6-pyruvoyl-tetrahydropterin synthase deficiency

Read more about causes of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Less Common Symptoms of 6-pyruvoyl-tetrahydropterin synthase deficiency

Misdiagnosis and 6-pyruvoyl-tetrahydropterin synthase deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as ...read more »

Evidence Based Medicine Research for 6-pyruvoyl-tetrahydropterin synthase deficiency

Medical research articles related to 6-pyruvoyl-tetrahydropterin synthase deficiency include:

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Research about 6-pyruvoyl-tetrahydropterin synthase deficiency

Visit our research pages for current research about 6-pyruvoyl-tetrahydropterin synthase deficiency treatments.

Statistics for 6-pyruvoyl-tetrahydropterin synthase deficiency

6-pyruvoyl-tetrahydropterin synthase deficiency: Broader Related Topics

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Definitions of 6-pyruvoyl-tetrahydropterin synthase deficiency:

6-pyruvoyl-tetrahydropterin synthase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that 6-pyruvoyl-tetrahydropterin synthase deficiency, or a subtype of 6-pyruvoyl-tetrahydropterin synthase 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 6-pyruvoyl-tetrahydropterin synthase deficiency as a "rare disease".
Source - Orphanet

Related 6-pyruvoyl-tetrahydropterin synthase deficiency Info

More information about 6-pyruvoyl-tetrahydropterin synthase deficiency

  1. 6-pyruvoyl-tetrahydropterin synthase deficiency: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Complications
 

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