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Pregnancy and PKU
- Low birth weight.
- Unusually small head.
- Problems with the heart.
Symptoms
PKU signs and symptoms can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body. Neurological problems that may include seizures. Skin rashes (eczema) Fair skin and blue eyes, because phenylalanine can't transform into melanin — the pigment responsible for hair and skin tone.
Causes
However, without treatment, babies usually develop signs of PKU within a few months. PKU signs and symptoms can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body. Neurological problems that may include seizures. Skin rashes (eczema)
Prevention
Untreated PKU can lead to: Irreversible brain damage and marked intellectual disability beginning within the first few months of life Neurological problems such as seizures and tremors Behavioral, emotional and social problems in older children and adults Major health and developmental problems
Complications
Women of childbearing years. It's especially important for women with a history of PKU to see a doctor and maintain the PKU diet before becoming pregnant and during pregnancy to reduce the risk of high blood phenylalanine levels harming their unborn babies. Adults. People with PKU continue to receive care across the life span.
What are the signs and symptoms of PKU?
What are the symptoms of phenylketonuria without treatment?
What happens if PKU is untreated?
What is the prognosis of phenylketonuria (PKU)?
What sort of symptoms would arise in uncontrolled PKU?
Children and adults who do not receive treatment for PKU may develop a variety of symptoms. Children with PKU who are not treated may develop symptoms including behavioral problems, seizures, and severe intellectual and developmental disabilities.
How does PKU affect the body?
In a child with PKU, phenylalanine cannot be converted to tyrosine because the phenylalanine hydroxylase enzyme does not work properly. This results in dangerously high levels of phenylalanine that build up in the blood and become toxic to the brain and nervous system.
Can PKU show up later in life?
Although it is principally a childhood disorder, in rare cases, the first signs of PKU may develop in late adulthood resembling common neurological diseases.
What is the life expectancy with someone with PKU?
PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states. PKU is usually identified by newborn screening. A child's outlook is very good if she strictly follows the diet.
How does PKU affect the brain?
PKU affects the brain. High blood Phe levels can cause disruptions in neurotransmitters like serotonin and dopamine, which are important for mood, learning, memory, and motivation. In addition to disrupting neurotransmitter balance, Phe itself can be directly toxic to the brain.
What organ is affected with PKU?
A. Phenylketonuria (PKU) is a treatable disorder that affects the way the body processes protein. Children with PKU cannot use a part of the protein called phenylalanine. If left untreated, phenylalanine builds up in the bloodstream and causes brain damage.
Can someone have PKU and not know it?
Newborns with PKU initially don't have any symptoms. However, without treatment, babies usually develop signs of PKU within a few months. Signs and symptoms of untreated PKU can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body.
Can you have a mild case of PKU?
Summary. Mild phenylketonuria is a rare form of phenylketouria (PKU variant), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. Patients with blood phenylalanine concentrations of 600-1,200 micromol/L are considered to have mild PKU.
Can untreated PKU reversed?
Although the severe cognitive impairment associated with untreated PKU can in many cases be partially reversed with dietary treatment, prompt initiation of treatment following newborn metabolic screening is essential for optimal development and the prevention of disability.
What do adults with PKU eat?
The diet for PKU consists of a phenylalanine-free medical formula and carefully measured amounts of fruits, vegetables, bread, pasta, and cereals. Many people who follow a low phenylalanine (phe) food pattern eat special low protein breads and pastas.
Is PKU a disability?
The Social Security Administration (SSA) addresses Phenylketonuria under Section 10.00 of the Blue Book, Multiple Body Systems. Phenylketonuria is specifically listed as an impairment that can cause interruption of normal body function and development under Section 10.00, Paragraph C.
What gender is PKU most common in?
Most adult PKU patients were female (58.1%) and the mean age of adult PKU patients in 2015 was 50.9 ± 20.4 years ( Table 1). ...
How does PKU affect the body at a cellular level?
The PKU gene tells the cell to make an enzyme that breaks down the amino acid phenylalanine. Faults in the genes (mutations) may cause problems in the body because the correct message is not being sent. In PKU, the cells are not making the enzyme that breaks down phenylalanine, so it builds up in the blood and tissues.
What happens if someone with PKU eat protein?
Without the enzyme necessary to break down phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that contain protein or eats aspartame, an artificial sweetener. This can eventually lead to serious health problems.
Who does PKU affect the most?
In the United States, PKU is most common in people of European or Native American ancestry. It is much less common among people of African, Hispanic, or Asian ancestry.
What happens if you have too much phenylalanine?
Phenylalanine can cause intellectual disabilities, brain damage, seizures and other problems in people with PKU . Phenylalanine occurs naturally in many protein-rich foods, such as milk, eggs and meat.
Overview
Symptoms
Causes
Risk Factors
Complications
Prevention
- Newborns with PKU initially don't have any symptoms. However, without treatment, babies usually develop signs of PKUwithin a few months. Signs and symptoms of untreated PKUcan be mild or severe and may include: 1. A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body 2. Nervous system (neurological) problems that m...