Living with Dihydropteridine reductase deficiency
A severe inherited condition where phenylalanine builds up in the blood, causing neurological problems starting in infancy.
Understanding Dihydropteridine reductase deficiency
It happens because the body cannot renew a helper substance called tetrahydrobiopterin (BH4). BH4 helps process amino acids and make brain messengers like dopamine and serotonin. Low levels cause neurological symptoms. GARD lists onset in the newborn or infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development overall
- Intellectual disability
- Small head size (microcephaly)
- Swallowing difficulties
- Low muscle tone (hypotonia)
- Seizures
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 QDPR 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 flok
- 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 QDPR gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 6,7-dihydropteridine reductase activity disease; atypical phenylketonuria; atypical pku; bh4-deficient hyperphenylalaninemia c; dhpr - dihydropteridine reductase deficiency; dhpr deficiency
Patient organizations
- flokDihydropteridine reductase deficiency · United States
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