Living with Hyperphenylalaninemia due to DNAJC12 deficiency
A rare inherited metabolic condition with high phenylalanine in the blood and nervous system symptoms, from mild to severe.
Understanding Hyperphenylalaninemia due to DNAJC12 deficiency
Nervous system symptoms vary a lot. Some people have mild autistic features or hyperactivity. Others have severe intellectual disability, dystonia (involuntary muscle contractions), and Parkinson-like signs. It usually shows in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Global developmental delay
- Mild intellectual disability
- Involuntary muscle contractions (dystonia)
- Attention problems
- Parkinson-like signs
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 DNAJC12 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National PKU Alliance and Dystonia Medical Research Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National PKU Alliance, Dystonia Medical Research Foundation
- 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 National PKU Alliance and other patient organizations
- 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 DNAJC12 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hyperphenylalaninemia, mild, non-bh4-deficient; non-phenylketonuric non-bh4-deficiency hyperphenylalaninemia
Patient organizations
- National PKU AllianceHyperphenylalaninemia due to DNAJC12 deficiency · United States
- Dystonia Medical Research FoundationDystonia · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyperphenylalaninemia due to DNAJC12 deficiency.
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