PKU

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...

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...

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...

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,...

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...

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...

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