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Report on Research on Rare Diseases in Children: FY 2000 to FY 2005

Office of Medical Applications of Research (OMAR), Office of Disease Prevention, Office of the Director, NIH

Overview of OMAR Rare Diseases in Children Research Activities, FY 2000–FY 2005

FY 2000

No pertinent activities.

FY 2001

Consensus Development Conference: Phenylketonuria (PKU): Screening and Management, October 16-18, 2000.

Classical PKU is a rare metabolic disorder (and orphan disease) affecting approximately one of every 15,000 infants in the United States. PKU usually results from a deficiency of a liver enzyme known as phenylalanine hydroxylase. This enzyme deficiency leads to elevated levels of the amino acid phenylalanine in the blood and other tissues. The untreated state is characterized by mental retardation, microcephaly, delayed speech, seizures, eczema, behavior abnormalities, and other symptoms.

In October 2000, NIH held a consensus development conference on fiPhenylketonuria (PKU): Screening and Management." NIH Consensus Statements are prepared by a non-advocate, non-Federal panel of experts, based on: 1) presentations by investigators working in areas relevant to the consensus questions during a two-day public session, 2) questions and statements from conference attendees during open discussion periods that are part of the public session, and 3) closed deliberations by the panel during the remainder of the second day and morning of the third. This statement is an independent report of the panel and is not a policy statement of the NIH or the Federal Government. The report is available online at

FY 2002 - FY 2005

No activities planned yet.


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Last Reviewed: May 15, 2003
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