Hawkinsinuria

Common Name(s)

Hawkinsinuria, 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

Hawkinsinuria is an autosomal dominant inborn error of metabolism ({3:Danks et al., 1975}; {6:Tomoeda et al., 2000}). Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Patients continue to excrete the hawkinsin metabolite in their urine throughout life.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hawkinsinuria" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hawkinsinuria" returned 1 free, full-text research articles on human participants. First 3 results:

Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.
 

Author(s): Georgia Thodi, Kleopatra H Schulpis, Yannis Dotsikas, Christiane Pavlides, Elina Molou, Maria Chatzidaki, Olga Triantafylli, Yannis L Loukas

Journal: J. Pediatr. Endocrinol. Metab.. 2016 Jan;29(1):15-20.

 

Hawkinsinuria is a rare inborn error of tyrosine metabolism.

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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