When National PKU News launched HowMuchPhe.org three years ago, we transformed a staple of life with PKU: The Low Protein Food List for PKU. What was a static reference document became a dynamic, collaborative, and evolving platform for finding foods and tracking intake, blood levels, and more. We’ve added hundreds of foods and dozens of new features to help you discover healthy, tasty, efficient, and affordable ways to manage the PKU diet, and you’ve responded by forming a community of users who are loyal, helpful, engaged, and creative. The merger with Cook for Love will build on this transformation to engage those of us who already love Brenda Winiarski’s recipes -- and introduce newcomers to the idea that it is possible to make your own tasty, healthy, and creative low-protein food.
Cook for Love launched eight years ago. It evolved out of a simple promise that Brenda made to her newborn -- that she would know the joy of food. The mission was to empower members of our community to improve their health through cooking and education. The goal was to dispel the myth that, given severe dietary restrictions, people on low protein diets must settle for less. The free site provided you with step by step instructions and cooking videos for making low protein recipes that you and your loved ones will truly enjoy. The mission and goals will remain the same, and the site will remain free. It will be enhanced and become a true community based resource.
The new CookForLove.org will:
Executive functions let people plan, organize and complete tasks. Here’s a closer look at the different areas of executive function and the skills they affect.
Learning works for kids (http://learningworksforkids.com/executive-functions/) Executive functions are brain-based cognitive skills that facilitate critical thinking and self-regulation. Executive functions call upon the prefrontal cortex of our brains to help with goal-setting and decision making. These skills include flexibility, focus, organization, planning, self-awareness, self-control, time management, and working memory.
BioMarin Pharmaceutical, Inc. is providing a courtesy list of these resources for interested patients. BioMarin did not produce these resources and the content of each represents the views of the author(s).
BioMarin Pharmaceutical, Inc. is providing a courtesy list of these resources for interested patients. BioMarin did not produce these resources and the content of each represents the views of the author(s).
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BioMarin Pharmaceutical, Inc. is providing a courtesy list of these resources for interested patients. BioMarin did not produce these resources and the content of each represents the views of the author(s).
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Approximate National incidence for some metabolic disorders:
PKU: 1 in 10,000 births.
MSUD: 1 in 225,000 births.
Homocystinuria: 1 in 200,000 births.
Citrullinemia: roughly effecting 1 in 60,000 births.
Urea Cycle Disorders: roughly est. to be 1 in 25,000 births.
Importance of Newborn Screening
Although each metabolic disorder included in the expanded newborn screening programs are rare, metabolic disorders in general have the potential to affect 1 in 2,400 infants annually. Routine newborn screening in the US began in the 1960’s for a single biochemical genetic disorder, phenylketonuria (PKU). Over the years, other metabolic disorders were added to the routine screenings.
In Arizona
Currently PCH metabolic team has nearly 200 patients in AZ (somewhere between 175 and 200) with PKU.
And approximately another 200 patients with another type of metabolic disorder such as MSUD, a Urea Cycle Disorder, Citrullinemia, Organic Acidemias (OAs) and more.
Early Detection is Critical
For those with metabolic disorders, early diagnosis and treatment are critical. Although babies born with these disorders may appear to be normal at birth, with time the disorder may have a devastating or lethal effect on the infant’s health and development.
Importance of Treatment:
Without treatment, babies with PKU usually develop symptoms within a few months. PKU symptoms can be mild or severe and may include: mental retardation, behavioral/social problems, seizures, tremors, jerking movements in the arms & legs, hyperactivity, stunted growth, skin rashes (eczema), small head size (microcephaly), musty odor in the child's breath, skin, or urine.
Allied Disorders such as Citrullinemia, Maple Syrup Urine Disease (MSUD), and Organic Acidemias (OAs) without treatment a toxic effect interferes with brain and or body function and symptoms progress rapidly to seizures, coma, and death.
If treatment is started early and babies remain with the treatment, they can develop normally and have a normal IQ. Treatment includes life-long dietary and frequent blood monitoring of the amino acids in their blood and/or urine, medical food and formula, and restricted diets to prevent metabolic crises.
Prior to ANPAD, these patients and their families rarely met.. They was very little coordination or support outside the hospital.
Support for the whole family
These metabolic disorders are rare and their names are not very well known, but these conditions are very real to the individuals and their families. Due to the patient’s inability to process protein, most are restricted to the amount of protein in one egg per day so it is imperative they use medical food supplements which can cost up to $16,000/monthly, and medications up to $500,000/year.
These disorders effect the entire family, ANPAD includes education opportunities and events to include all family members including:
workshops, family community events, educational and research talks, camps and more. Support ANPAD today.
also see Amino Acid Disorders Information
The Medical Nutrition Equity Act
The Medical Nutrition Equity Act will save and improve lives!
From NPKUA website: Take-Action/Medical-Nutrition-Equity-Act
Specialized foods are medically necessary for the safe and effective management of digestive and inherited metabolic disorders that impact digestion, absorption, and metabolism of nutrients. For example:
People with the inherited metabolic disorder called phenylketonuria (PKU) cannot utilize the amino acid, phenylalanine, so must consume a phenylalanine-free liquid medical formula every day for life.
Many patients with digestive and metabolic disorders also require supplementation of specific vitamins to avoid deficiencies.
Without these specialized foods, infants, children, and adults can suffer adverse health consequences, including hospitalization, intellectual impairment, behavioral dysfunction, inadequate growth, nutrient deficiencies, and even death. Although these foods are essential for patients, they are often expensive and not uniformly reimbursed by health insurance, leaving many families with a large financial burden.
The Medical Nutrition Equity Act would provide public and private insurance coverage for medically necessary foods1 (including vitamins) for digestive and inherited metabolic disorders.
Medically necessary foods would be covered under Medicaid, CHIP, Medicare, TriCare, FEHBP, and private insurance if they are prescribed by the patient’s provider.
The Medical Nutrition Equity Act would ensure that public and private insurance covers medically necessary foods required to prevent severe disabilities and death so that children and adults with digestive and inherited metabolic disorders can become healthy and productive citizens.
HOW WOULD THE Medical NUTRITION Equity Act HELP INDIVIDUALS WITH PKU?
Medically Necessary Foods for PKU are not addressed by the Affordable Care Act.
The Impact of
About 15,000 people in the United States have PKU, while 5,000 have another type of inborn error of metabolism. The average annual cost of medically necessary food for PKU is approximately $20 per day. However, care for an untreated PKU patient in residential treatment costs at least $165 per day.
1 The terminology medically necessary foods is being used instead of medical foods to avoid confusion with the Orphan Drug Act (ODA) definition of medical foods. The ODA definition, which requires a product to be specifically designed to meet the distinctive nutritional requirements of a patient, is overly narrow in relation to how nutritional products are currently developed and used in the health care setting.
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Amino Acid Disorders
Amino acid disorders (AAs) are a group of rare inherited conditions. They are caused by enzymes that do not work properly.Protein is made up of smaller building blocks called amino acids. A number of different enzymes are needed to process these amino acids for use by the body. Because of missing or non-working enzymes, people with amino acid disorders cannot process certain amino acids. These amino acids, along with other toxic substances, then build up in the body and cause problems. These diseases can affect many organs and usually affect more than one. Symptoms often tend to be non-specific and usually relate to major organ dysfunction or failure. Which means damage can occur without the person being aware of it. Inherited metabolic disorders vary from degenerative to acute life-threatening. The symptoms and treatment vary between different amino acid disorders. They can also vary from person to person with the same amino acid disorder.
WHY?
Each parent of a child with an autosomal recessive metabolic disorder carries a recessive defective gene along with a normal gene; therefore, both parents are carriers and are not affected by the disorder. Persons with metabolic disorders have received a defective gene from each parent.
When both parents are carriers, there is a 1 in 4 chance with each pregnancy that the baby will receive a defective gene from each parent and have a metabolic disorder; a 2 in 4 chance the baby will be a carrier; and a 1 in 4 chance the baby will receive two normal genes (unable to pass the disorder on to offspring).
Newborn Screening
Although each metabolic disorder included in expanded newborn screening programs is rare, metabolic disorders in general have the potential to affect 1 in 2,400 infants annually. Routine newborn screening in the US began in the 1960’s for a single biochemical genetic disorder, phenylketonuria (PKU). Over the years, other metabolic disorders were added to the routine screenings. In the past, testing for each disorder required a separate test and a separate disk punched from a dried blood sample on filter paper. However, recent application of tandem mass spectrometry provides the opportunity to screen for many disorders with only a single blood sample.
What happens?
PKU occurs when an enzyme, called “phenylalanine hydroxylase” (PAH), is either missing or not working properly. The job of this enzyme is to chemically change the amino acid phenylalanine (Phe – pronounced ‘fee’) into other substances. When a child with PKU eats food containing Phe, it builds up in the blood and causes problems. Phe is found in almost every food, except pure fat and sugar. Babies with PKU seem perfectly normal at birth. The first effects are usually seen around 6 months of age. Untreated infants may be late in learning to sit, crawl and stand. They may pay less attention to things around them. Without treatment, a child with PKU will have mental retardation.
Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorders that affect the way the body metabolizes (processes) certain components of the branched chain amino acids. When these amino acids are not broken down as normally designed, they accumulate in the blood causing a toxic effect that interferes with brain functions. The symptoms of classic MSUD are usually evident within the first week of life and include a poor appetite, irritability, high pitched cry, urine that smells like maple syrup or burnt sugar. Within days, the infants may lose their sucking reflex and grow listless, have a high-pitched cry, and become limp with episodes of rigidity. Without diagnosis and treatment, symptoms progress rapidly to seizures, coma, and death.
Homocystinuria (HCY) is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form of homocystinuria is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems.
Citrullinemia (CIT) is one type of amino acid disorder. People with this condition cannot remove ammonia from the body. Ammonia is a harmful substance. It is made when protein and its building blocks, amino acids, are broken down for use by the body. Normally, the body changes ammonia into a substance called “urea”. Urea is then safely removed in the urine. If ammonia is not changed to urea, high levels build up in the blood. This can be very harmful. If ammonia levels stay high for too long, severe brain damage can occur, coma and or death.
Urea Cycle Disorder is a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to a compound called urea in the blood. Normally, the urea is transferred into the urine and removed from the body. In urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death.
Treatment
Treatments require daily, life-long dietary monitoring to prevent metabolic crises. Patients with metabolic disorders undergo frequent blood testing to monitor the levels of the amino acids in their blood and/or urine. Illnesses and stress, as well as consuming too much protein, can raise these levels. A metabolic imbalance requires dietary changes, may require medicines, at times, hospitalization. For example: Babies with amino acid disorders may get certain medicines that help help treat the disorder. They may take these medicines by mouth, or they may need to get them through an IV . Treatments are costly and require to maintain a healthy condition .If treatment is started early and continued, babies can develop normally and have normal IQ.
Please consider giving to ANPAD.
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