Living with Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
A rare genetic metabolic condition with high phenylalanine in newborns, often temporary and benign.
Understanding Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
It is due to a shortage of tetrahydrobiopterin and starts in the newborn period. Features can include low muscle tone, irritability, slow learning of motor skills, and movement problems that appear with age. GARD says neurological development is normal with dietary control of blood phenylalanine.
Signs & symptoms
Symptoms vary from person to person. GARD lists oculogyric crisis among the most common features, and these others:
- Low muscle tone (hypotonia)
- Irritability
- Slow learning of motor skills
- Movement problems such as dystonia
- Episodes of the eyes rolling upward (oculogyric crisis)
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 PCBD1 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
This condition is caused by changes in the PCBD1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cadh deficiency; dehydratase deficiency; hyperphenylalaninemia due to dehydratase deficiency; hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency; hyperphenylalaninemia with primapterinuria; hyperphenylalaninemia, bh4-deficient, type d
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 Pterin-4 alpha-carbinolamine dehydratase 1 deficiency.
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