My story is below and I found out about Urea Cycle Disorders and I wanted to tell you about my twenty five year old fiancé. From what I understand, Baylor University, the Mayo Clinic in Minnesota and a university in California have all been involved in studying cultures provided by Good Samaritan Hospital in Phoenix for Joseph Patrick Phillips. Would you please help me to crusade against it happening to others. Your reply would be deeply appreciated. Read the rest of this entry
Posts Tagged ‘metabolic disorder’
Urea Cycle Disorders – The hidden danger
Tuesday, June 23rd, 2009Tags: Inherited Metabolic Disorders, metabolic, metabolic disorder, urea cycle disorders
PKU – What it means for my son
Friday, January 30th, 2009Birthday cake, a hot dog, even a McDonald’s Happy Meal are all off limits to our six-year-old son James.
James doesn’t have food allergies, though. He suffers from PKU, which drastically limits his diet for the rest of his life. PKU means James’ body can’t metabolize phenylalanine, one of the building blocks of protein.
Tags: Inherited Metabolic Disorders, metabolic disorder, PKU and Children, Thoughts on PKU
London Low Protein Cookery Demo
Monday, January 19th, 2009Nutricia held another of our low protein cookery days on the 14th January 2009 at The Cookery School, London. The aim of the day was to provide Health Care Professionals (HCPs), with practical tips and advice to pass on to the patients they have who follow a restricted, low protein diet. The group was made up of mainly dietitians but there was also a dietetic chef who didn’t have much experience in this area.
Tags: cooking metabolic, Diet Tips, metabolic, metabolic awareness, metabolic disorder
Learning about PKU – One boyfriends odyssey!
Monday, December 1st, 2008My partner has PKU and is showed my a few of the blogs on this site and, knowing I’m a bit of serial blogger, ask me to do something for this site so I’ve written a blog about living with someone with PKU as I’ve read a few by people with PKU and want to put across the other side of it.As you may have guessed, I am non PKU, in fact had no idea of what PKU was until I met Jill.
Tags: metabolic awareness, metabolic disorder, PKU, Thoughts on PKU
Birmingham Children’s Hospital IMD Games 2008
Monday, September 29th, 2008On the 28th September 2008, over 100 children converged at the Alexander Stadium, Birmingham, to participate in a special day. What made the day so special was that the children participating had all been affected in one way or another, by an Inborn Metabolic Disease.
Tags: Add new tag, IMD, metabolic awareness, metabolic disorder
A single mother’s perspective on PKU: Part V: Telling the father
Tuesday, July 22nd, 2008I think this was nearly as hard as discovering that Jack had PKU. Do I tell the father that his son has PKU? Do I tell the father that he is a carrier? Maybe he already knows, maybe he has PKU himself? Do I tell the father that he is a father? He could already have children, I never really found out.
Tags: metabolic disorder, PKU, Single Mother
Phenylketonuria
Tuesday, July 1st, 2008HOW IS THIS DISEASE PASSED ON?
The metabolic disease phenylketonuria (PKU) is transferred to people through the genes they inherit from their parents. There have been cases of metabolic diseases being caused from the over consumption of a certain food and also via exposure to drugs that have caused a dormant gene to become active. This is exceptionally rare though and diseases such as PKU are detected at birth.
Tags: metabolic awareness, metabolic disorder, Phenylketonuria, PKU
MSUD, Maple Syrup Urine Disease
Monday, June 30th, 2008This is part three in the series for Metabolic Disease Awareness Week. It focuses on Maple Syrup Urine Disease or as it is commonly called MSUD.
MSUD has an incidence rate of 1 in 250,000 people in the UK (this is similar to the US): it is inherited in a autosomal recessive manner. This means that the parents of the affected child carry a genetic trait that causes MSUD. There is a 25% chance of having a child with MSUD if both parents are carriers.
Tags: Add new tag, Maple Syrup Urine Disease, metabolic disorder, MSUD
Metabolic Disease Awareness Week: PKU
Sunday, June 29th, 2008This is part two in the series for Metabolic Disease Awareness Week. It focuses on the most common of these diseases Phenylketonuria or PKU (which is what it is commonly known as).
Tags: metabolic awareness, metabolic disorder, Phenylketonuria, PKU
PKU and other metabolic diseases, now and then…
Sunday, June 29th, 2008-
As part of meatbolic awareness week over in the UK, I thought I’d write this blog for people who want to know more about meatbolic diseases and what we, as medics, hope the future holds for them.
Tags: genetic testing, metabolic disorder, newborn screening, PKU