Clinical Research Directory

Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol

Background: \- People with inborn errors of metabolism can t turn food into energy the right way. This can affect a person s growth and health. Researchers want to know how this condition affects a pregnant woman and her baby. Objectives: \- To collect data from the medical records of women with an inborn error of metabolism. Also, to create a pregnancy registry of inborn errors of metabolism. Eligibility: * Women with an inborn error of metabolism who either: * have been pregnant in the past, * are currently pregnant, or * have recently talked with their doctor about becoming pregnant. Design: * This study will collect data only. No extra tests will be done. * Participants will be in the study for the length of their pregnancy and for 1 year after delivery. * Participants will answer questions about their family s health. * The participant s doctor will send their medical records to researchers. These may include data about: * Last health care visit before pregnancy * Blood, urine, ultrasound, or lab results during pregnancy * Delivery and recovery after delivery * Researchers will ask for the test(s) used to confirm pregnancy. * After the participant has her baby, researchers will ask for data about how the baby is doing. This may include when the baby is sitting, walking, talking, etc. * The data will be placed into a database. The database will not include the participant s name or identifying data.