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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. More detailed information about the symptoms, causes, and treatments of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency is available below.
See full list of 8 symptoms of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
Read more about complications of 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency.
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Read about other experiences, ask a question about 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, or answer someone else's question, on our message boards:
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
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