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International Birth Defects Information Systems
Phenylketonuria - PKU

International Birth Defects Information Systems

Phenylketonuria - PKU

Topics: | Phenylketonuria | PKU |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | Spanish | Ukrainian |

PKU Phenylketonuria
March of Dimes
Visitor Comments [for Professionals mainly] [Support Groups]
PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation. Fortunately, through routine newborn screening, almost all affected newborns are now diagnosed and treated early, allowing them to grow up free of mental retardation.

The Discovery of PKU by Dr. Asbjørn Følling: Norway, 1934
Dr. Ivar Følling, University of Trondheim Hospital, Norway, PKU News, July 2000
Visitor Comments [for Professionals mainly]
This story is based on a talk given by Dr. Ivar Følling, son of the man who discovered PKU. It was presented at a meeting in Elsinore, Denmark, May 24-27,1994. The stage is set in 1934. A mother with two severely mentally retarded children came to see my father, and to ask for his advice. As usual in such cases she had asked many doctors for help, which none had been able to give. But this woman was unusually persistent and would not accept the situation without explanation. She had also noticed that a peculiar smell always clung to her children. Why did she choose my father as a source of advice? Today doctors usually have some knowledge of chemistry and biochemistry, whereas at that time this was more unusual. He was first trained as a chemist and later studied medicine. He held a professorship of nutrient research at the University Hospital in Norway.

Victor A. McKusick, OMIM, Johns Hopkins University, October 23, 2007
Visitor Comments [for Professionals mainly]
PKU, Phenylalanine Hydroxylase Deficiency, Pah Deficiency, Oligophrenia Phenylpyruvica, Folling Disease, Phenylalanine Hydroxylase, PKU1, Hyperphenylalaninemia, Hpa, Phenylalaninemia.

Loprofin-Low Protein Products
Nutricia North America
Visitor Comments [Support Groups]
All Loprofin products are suitable for a gluten-free, milk-free, lactose-free, and egg-free diet.

Phlexy-10 System
Nutricia North America
A new, interchangeable system of protein supplements.

National PKU Newsletter

What is PKU?
Virginia E. Schuett, MS, RD, Director, National PKU News, July 2000
PKU (phenylketonuria), in its "classic" form, is a rare, inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life. When a very strict diet is begun early and well-maintained, effected children can expect normal development and a normal life span. (Not all elevations of blood phenylalanine require treatment; any child with a level less than 6 mg/dl does not need to be on a special diet and is not risk for mental retardation.)

British and European Guidelines for the Treatment of PKU
PKU News, October 2000

Adults with PKU
PKU News, August 2006

PKU Related Links
PKU News, November 2007

La Fenilcetonuria (PKU)
March of Dimes ...
Visitor Comments [Spanish]

Phenylketonuria - PKU
I.B.I.S. Birth Defects, February 5, 2002
Visitor Comments [Ukrainian]
PKU Fact Sheet

Last Updated: 2008/2/20


American Medical Association