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What is 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency?

What is 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency?

  • 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: A very rare metabolic disorder where a deficiency of a particular enzyme results in the urinary excretion of a chemical called hawkinsin. Symptoms start once the infant is weaned off breast milk.

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, or a subtype of 4-Alpha-hydroxyphenylpyruvate hydroxylase 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 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency as a "rare disease".
Source - Orphanet

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: Introduction

Types of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency:

Broader types of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency:

How serious is 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency?

Complications of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: see complications of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

What causes 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency?

Causes of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: see causes of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

What are the symptoms of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency?

Symptoms of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: see symptoms of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

Complications of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: see complications of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

Can anyone else get 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency?

More information: see contagiousness of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
Inheritance: see inheritance of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: Testing

Misdiagnosis: see misdiagnosis and 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency.

How is it treated?

Doctors and Medical Specialists for 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: Medical Geneticist ; see also doctors and medical specialists for 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency.
Treatments for 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: see treatments for 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

Name and Aliases of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

Main name of condition: 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

Other names or spellings for 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency:

Hawkinsinura, Hawkinsinuria

Hawkinsinuria
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: Related Conditions

Research the causes of these diseases that are similar to, or related to, 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency:

 

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