Resources and information for patients with metabolic disorders, and for their families —
Newborn Screening: A Guide for Parents
This guide explains why newborns are screened for metabolic disorders, how the screening works, what the results mean, and what parents can do if your baby’s pediatrician recommends follow-up testing.
For Parents of Babies with Metabolic Disorders
If you are a parent of a newborn baby that recently tested positive for a metabolic disorder, you probably have a lot of questions. The guides in this section explain what each metabolic disorder is, why a baby has it, the symptoms and effects, and the treatment.
This straightforward yet comprehensive guide provides a wealth of genetics information for patients and health care professionals. Produced by the Genetic Alliance, it covers basic genetic concepts, as well as in-depth information about genetic conditions, newborn screening, family-history gathering, genetic counseling and genetic testing. It can be viewed and printed chapter-by-chapter, or as a single, printable document.
A person has phenylketonuria (PKU) when thier body cannot process a chemical called phenylalanine. The resources in this section are for parents of babies and children with PKU, and also for teens and adults who have PKU.
A person has galactosemia when thier body has trouble processing a chemical called galactose. The resources in this section are for parents of babies and children with galactosemia, and also for teen girls and young women who have galactosemia and related health conditions.
Urea Cycle Disorders
A person has a urea cycle disorder when their body is missing enzymes that remove excess nitrogen from the blood. This section is for patients, families, and educators of children, teens and young adults who have urea cycle disorders.
Other Metabolic Disorders
Although phenylketonuria (PKU) and galactosemia are more common, other types of metabolic disorders sometimes affect infants, children, or adults. These include amino acid disorders, fatty acid oxidation disorders, and organic acid disorders.
The Boston Children’s Hospital Transition Toolkit was created for teenagers who are transitioning to adulthood, and who are ready to be in charge of managing thier metabolic condition and their health in general. The toolkit includes basic FAQs about various metabolic conditions, a health summary form for teens to fill out and keep in a safe place, and a transition plan for teens to discuss and fill out with their primary care provider and metabolic specialist.
Group members of the New England Consortium of Metabolic Programs organize events throughout the New England area for kids and teens with metabolic disorders, and for their families. These events are a chance to socialize, have fun, and share information and support.