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 2000FY 2005
No pertinent activities.
Consensus Development Conference: Phenylketonuria (PKU): Screening and Management, October 16-18,
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
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 http://consensus.nih.gov.
FY 2002 - FY 2005
No activities planned yet.