Overview
Phenylketonuria is treated with 8 medications in our database, including Sapropterin Dihydrochloride, SAPROPTERIN DIHYDROCHLORIDE, Sapropterin dihydrochloride, PCXX VANILLA ORANGE ONE MINUTE FM, Palynziq, and 3 more. 7 of these have manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by BioMarin, Pascal, Sentynl. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Phenylketonuria treatment below.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
10 eventsOtsuka Pharmaceutical Development & Commercialization, Inc. — PHASE3
Sohag University — PHASE1
Egoo Health Aps — NA
Mansoura University — PHASE4
NGGT INC. — PHASE1
University of Missouri-Columbia — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
6 availableSephience
1 INDICATIONS AND USAGE SEPHIENCE is indicated for the treatment of hyperphenylalaninemia (HPA) in adult and pediatric patients 1 month of age and older with sepiapterin-responsive phenylketonuria (PK…
1 INDICATIONS AND USAGE SEPHIENCE is indicated for the treatment of hyperphenylalaninemia (HPA) in adult and pediatric patients 1 month of age and older with sepiapterin-responsive phenylketonuria (PKU). SEPHIENCE is to be used in conjunction with a phenylalanine (Phe)-restricted diet. SEPHIENCE is a phenylalanine hydroxylase (PAH) activator indicated for the treatment of hyperphenylalaninemia (HPA) in adult and pediatric patients 1 month of age and older with sepiapterin-responsive phenylketonuria (PKU). SEPHIENCE is to be used in conjunction with a phenylalanine (Phe)- restricted diet. ( 1 )
Palynziq
1 INDICATIONS AND USAGE PALYNZIQ is indicated to reduce blood phenylalanine concentrations in adult and pediatric patients 12 years of age and older with phenylketonuria (PKU) who have uncontrolled bl…
1 INDICATIONS AND USAGE PALYNZIQ is indicated to reduce blood phenylalanine concentrations in adult and pediatric patients 12 years of age and older with phenylketonuria (PKU) who have uncontrolled blood phenylalanine concentrations greater than 600 micromol/L on existing management. PALYNZIQ is a phenylalanine (Phe)-metabolizing enzyme indicated to reduce blood phenylalanine concentrations in adult and pediatric patients 12 years of age and older with phenylketonuria (PKU) who have uncontrolled blood phenylalanine concentrations greater than 600 micromol/L on existing management. ( 1 )
Sapropterin Dihydrochloride
1 INDICATIONS AND USAGE Sapropterin dihydrochloride tablets are indicated to reduce blood phenylalanine (Phe) levels in adult and pediatric patients one month of age and older with hyperphenylalaninem…
1 INDICATIONS AND USAGE Sapropterin dihydrochloride tablets are indicated to reduce blood phenylalanine (Phe) levels in adult and pediatric patients one month of age and older with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin- (BH4-) responsive Phenylketonuria (PKU). Sapropterin dihydrochloride tablets are to be used in conjunction with a Phe-restricted diet. Sapropterin dihydrochloride tablets are a phenylalanine hydroxylase activator indicated to reduce blood phenylalanine (Phe) levels in adult and pediatric patients one month of age and older with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin- (BH4-) responsive Phenylketonuria (PKU). Sapropterin dihydrochloride tablets are to be used in conjunction with a Phe-restricted diet. ( 1 )
Kuvan
KUVAN is indicated to reduce blood phenylalanine (Phe) levels in adult and pediatric patients one month of age and older with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin- (BH4-) responsive …
KUVAN is indicated to reduce blood phenylalanine (Phe) levels in adult and pediatric patients one month of age and older with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin- (BH4-) responsive Phenylketonuria (PKU). KUVAN is to be used in conjunction with a Phe-restricted diet.
PCXX VANILLA ORANGE ONE MINUTE FM
Detailed copay and financial assistance information is not publicly available for this medication at this time. Please consult your pharmacist or the manufacturer's official patient support program fo
Nulibry
* Patient Copay Amount: Not Publicly Available * Maximum Annual Benefit Limit: Not Publicly Available * Core Eligibility Restrictions: Must be a United States resident and have a prescription for a th
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Treatment Centers
8 centersChildren's Hospital Colorado
📍 Aurora, Colorado
👤 Zachary Grinspan, MD
Arkansas Children's Hospital
📍 Little Rock, Arkansas
Boston Children's Hospital
📍 Boston, Massachusetts
Children's Hospital of Philadelphia
📍 Philadelphia, Pennsylvania
👤 Study Director
👤 Richard Neibeger, MD
Ann & Robert H. Lurie Children's Hospital of Chicago
📍 Chicago, Illinois
Northwestern University
📍 Chicago, Illinois
👤 Ann (Annie) W Silk
Vanderbilt University Medical Center
📍 Nashville, Tennessee
University of Minnesota
📍 Minneapolis, Minnesota
Financial Resources
10 resourcesGood Days — Phenylketonuria
Good Days
Phenylketonuria
Patient Services Inc — Phenylketonuria
Patient Services Inc
Phenylketonuria
NORD Patient Assistance — Phenylketonuria
NORD Patient Assistance
Phenylketonuria
HealthWell Foundation — Phenylketonuria
HealthWell Foundation
Phenylketonuria
The Assistance Fund — Phenylketonuria
The Assistance Fund
Phenylketonuria
PAN Foundation — Phenylketonuria
PAN Foundation
Phenylketonuria
Travel Grants
No travel grants are currently matched to Phenylketonuria.
Community
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Start the conversation →Latest news about Phenylketonuria
3 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Phenylketonuria
What is Phenylketonuria?
Phenylketonuria is treated with 8 medications in our database, including Sapropterin Dihydrochloride, SAPROPTERIN DIHYDROCHLORIDE, Sapropterin dihydrochloride, PCXX VANILLA ORANGE ONE MINUTE FM, Palynziq, and 3 more. 7 of these have manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by BioMarin, Pascal, Sentynl. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Phenylketonuria treatment below.
How is Phenylketonuria inherited?
Phenylketonuria follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Phenylketonuria typically begin?
Typical onset of Phenylketonuria is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Phenylketonuria?
Yes — 20 recruiting clinical trials are currently listed for Phenylketonuria on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Phenylketonuria?
25 specialists and care centers treating Phenylketonuria are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Phenylketonuria?
5 FDA-approved treatments and 9 patient support programs are currently tracked on UniteRare for Phenylketonuria. See the treatments and support programs sections for copay assistance, eligibility, and contact details.