Diagnosis of Phenylketonuria with hyperphenylalaninemia

PKUDOS Registy

Inclusion Criteria:

• Patient has confirmed diagnosis of PKU with hyperphenylalaninemia documented by a Phenylalnine level of greater than 360 umol/L (6 mg/dL).
• Patient has previously received Kuvan.
• Patient is currently receiving Kuvan.
• Patient intends to receive Kuvan therapy within 90 days of enrollment into the registry.
• The Patient is being followed at a PKUDOS participating center.
• Willing and able to provide written authorization or, if under the age of 18 years, provide written assent (if required) and written patient authorization by a parent or legal guardian.
• Willing to provide personal health information.

Exclusion Criteria:

• Patients are not eligible to participate in PKUDOS if they are participating in a BioMarin-sponsored clinical study of Kuvan.
• Patients not previously treated with Kuvan and patients that are unwilling to begin Kuvan therapy within 90 days of entry into the registry.

PKU MOMS Subregistry (Maternal Phenylketonuria Observational Program)

Inclusion Criteria:

• Willing to enroll in (or are already enrolled in) PKUDOS.
• Agree to follow the standard of care for pregnant women with PKU in the United States (NIH, 200, NIH Consensus Statement).
• Agree to be followed by a hospital or PKU clinic offering the standard of care for maternal PKU.
• Are within 10 weeks of their last menstrual period.

Exclusion Criteria:

• Patients who have not adhered to the standard of care for pregnant women with PKU in the United States are not eligible to participate in PKU MOMS.