Living with Hawkinsinuria
An inherited condition in which the body can't break down the amino acid tyrosine, with signs that start around weaning from breast milk.
Understanding Hawkinsinuria
This leads to certain amino acids, such as hawkinsin, in the urine. Features usually appear when infants are weaned from breast milk and start formula.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor weight gain and growth (failure to thrive)
- Too much acid in the blood (acidosis)
- Fine or sparse hair
- Low muscle tone (hypotonia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in HPD are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the HPD gene cause this condition. It is inherited in an autosomal dominant way, which means one changed copy of the gene is enough.
Also known as: 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; 4-hppd deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency; hawkinsin high in urine; hpd-gene related hawkinsinuria
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hawkinsinuria.
Explore research for Hawkinsinuria
Explore actively recruiting Hawkinsinuria studies with HealthSpark.
Find actively recruiting studies for Hawkinsinuria with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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