PKU

Some Famous People with PKU (Phenylketonuria)

There are different types of illnesses that people need to be aware of in order to make sure that they stay physically healthy. There are illnesses that are considered to be severe. Therefore, people need to see to it that they are going to seek the assistance of the doctor in order to treat...

PKU (Phenylketonuria) – Diseases & Conditions | Med Log

Definition of PKU (Phenylketonuria) Phenylketonuria (fen-ul-ke-toe-NU-re-uh) is a birth defect that causes an amino acid called phenylalanine to build up in your body. Phenylketonuria is caused by a mutation in a gene that helps create the enzyme needed to break down phenylalanine. Amino acids are the building blocks for protein, but too much phenylalanine can cause...

Diet Intervention Guidelines For Adults With Untreated PKU-TERM LIFE

by Barbara E. Dolan, RN, MSN Nurse Counselor for Genetics, Redwood Coast Regional Center, Ukiah, CARichard Koch, MD Division of Medical Genetics, Children’s Hospital of Los Angeles and The Department of Pediatrics, University of Southern California, School of Medicine, Los Angeles, CA Christina Bekins, MS, RD Nutrition Consultant, Calistoga, CA Virginia Schuett, MS, RD Nutritionist and Director, National PKU News, Seattle,...

Phenylketonuria (PKU) darkest side -Term life

Phenylketonuria (PKU) is an inborn error of metabolism that results from the absence of a liver enzyme,phenylalanine hydroxylase. It is an inherited autosomal recessive trait that causes negative impact on development and mental retardation.Phenylalanine hydroxylase enzyme is responsible for the conversion of phenylalanine (an essential amino acid) to tyrosine. The nonessential amino acid, tyrosine, is...

How Confident Can You Be with Your PKU Treatment Plan?

Andrew Schorr:Okay. Laurie, let me ask you this. So let’s do a little, I kind of have a line down the mental piece of paper here, and the responsibilities for the provider in helping make sure that the Phe of the patient is in control and the responsibilities of the patient or the family....

Oxford woman living with rare disease of PKU celebrates Awareness Day-Term Life

OXFORD TWP.—Terri Pallini is a mother of two, has a brown belt in karate and lives with Phenylketonuria, or PKU. Although her illness requires a daily regimen of nutrition monitoring and regular blood work, Pallini is clear about one thing. She isn’t a victim and she isn’t suffering.PKU is a rare condition in which...

Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report

The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn error of the metabolism resulting from a phenylalanine hydroxylase deficiency. Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the enzyme alpha-galactosidase A. Case presentation We report a case of...

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