Living with 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
An inherited metabolic condition that affects brain chemicals and can cause low muscle tone and slowly worsening thinking and movement problems.
Understanding 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
It leads to high phenylalanine in the blood (hyperphenylalaninemia) from low BH4, and a lack of the brain chemicals dopamine and serotonin. Over time, thinking and movement problems get worse. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Arched back and neck (opisthotonus)
- Progressive thinking difficulties
- Progressive movement difficulties
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PTS 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
- Brain and nervous system specialists (neurologists); 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 PTS gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 6-pyruvoyl tetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency; 6-pyruvoyltetrahydropterin synthase deficiency; 6pts - 6-pyruvoyl-tetrahydrobiopterin synthase deficiency; bh4-deficient hyperphenylalaninemia a; bh4-deficient hyperphenylalaninemia type a
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 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency.
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