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Newborn screening has greatly contributed to early recognition of many devastating inherited errors of metabolism. Currently, the following tests are performed in the United States, but may vary by the state.

Phenylketonuria (PKU)
Maple syrup urine disease
Congenital Hypothyroidism
Congenital adrenal hyperplasia (CAH)
Biotinidase deficiency
Sickle cell anemia

There are also serological tests which are not specific for any one disease but may indicate a possible disease state. These tests are included in a separate section of pregnancy laboratory testing.


National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.

National Institutes of Health Consensus Development Panel.

Pediatrics 2001 Oct;108(4):972-82 Abstract quote

OBJECTIVE: To provide health care providers, patients, and the general public with a responsible assessment of currently available data regarding screening for and management of phenylketonuria (PKU).

PARTICIPANTS: A nonfederal, nonadvocate, 14-member panel representing the fields of pediatrics, genetics, human development, public policy, nursing, and molecular physiology and including patient representatives. In addition, 19 experts in pediatrics, medical genetics, psychology, pediatric neurology, biochemical and molecular genetics, and gene therapy presented data to the panel and to a conference audience of 312.

EVIDENCE: The literature was searched using Medline for January 1980 through July 2000, and an extensive bibliography of 3394 references was provided to the panel. Experts prepared abstracts for their conference presentations with relevant citations from the literature. Scientific evidence was given precedence over clinical anecdotal experience.

CONSENSUS PROCESS: The panel, answering predefined questions, developed its conclusions based on the scientific evidence presented in open forum and the scientific literature. The panel composed a draft statement, which was read in its entirety and circulated to the experts and the audience for comment. Thereafter, the panel resolved conflicting recommendations and released a revised statement at the end of the conference. The panel finalized the revisions within a few weeks after the conference. The draft statement was made available on the World Wide Web immediately after its release at the conference and was updated with the panel's final revisions. The statement is available at http://consensus.nih.gov.

CONCLUSIONS: Genetic testing for PKU has been in place for almost 40 years and has been very successful in preventing severe mental retardation in thousands of children and adults. Metabolic control is necessary across the lifespan of individuals with PKU. A comprehensive, multidisciplinary, integrated system is needed to delivery of care to individuals with PKU. Greatly needed are consistency and coordination between screening, treatment, data collection, and patient support programs. There should be equal access to culturally sensitive, age-appropriate treatment programs. Ethically sound, specific policies for storage, ownership, and use in future studies of archived samples remaining from PKU testing should be established. Research into the pathophysiology of PKU and relationship to genetic, neural, and behavioral variation is strongly encouraged. Uniform policies must be established to remove financial barriers to the acquisition of medical foods and modified low-protein foods and to provide access to support services needed to maintain metabolic control in individuals with PKU. Research on nondietary alternative treatments for PKU is strongly encouraged. To achieve optimal statistical power and cross-cultural applicability, it will be beneficial to use data acquired via national and international collaboration.phenylketonuria, hyperphenylalanimea, phenylketonuria screening, phenylalanine-restricted diet, maternal phenylketonuria, newborn screening, phenylalanine monitoring, phenylketonuria outcomes.

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Metabolic and Inherited Disorders

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