PKU

Foods to Avoid on a Phenylketonuria Diet | Med Log

cup of hot chocolate Photo Credit HandmadePictures/iStock/Getty Images Overview Pheylketonuria (PKU) is a genetic disorder in which the body is not able to process an amino acid called phenylalanine, according to MedlinePlus.com. High levels of phenylalanine can damage the brain and lead to mental retardation. All babies born in the U.S. must have a screening test...

I Survived PKU Disease And You Will Too.Best Ever Treatment Options In My Life

A treatment can prevent intellectual disabilities and other health problems.1 A person with PKU should receive treatment at a medical center that specializes in the disorder. The PKU Diet People with PKU need to follow a diet that limits foods with phenylalanine. The diet should be followed carefully and be started as soon after birth as possible....

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...

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....

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,...

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...

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...

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