Why do people with PKU have seizures?
Clinical presentation. Serum phenylalanine concentrations in infants with PKU are normal at birth but begin to rise within the first few weeks of life. Excessive phenylalanine is generally thought responsible for the brain damage that underlies the severe mental retardation and seizure disorder of PKU.
Can PKU develop in adults?
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 would cause a seizure in an adults?
Anything that interrupts the normal connections between nerve cells in the brain can cause a seizure. This includes a high fever, high or low blood sugar, alcohol or drug withdrawal, or a brain concussion. But when a person has 2 or more seizures with no known cause, this is diagnosed as epilepsy.
What causes seizures in adults with no history?
Seizures in adults with no seizure history can be caused by a number of factors ranging from high blood pressure, drug abuse and toxic exposures to brain injury, brain infection (encephalitis) and heart disease.
What is the most common cause of seizures in older adults?
The most common cause of seizure activity in seniors is cerebrovascular disease, occurring more frequently as a consequence of a hemorrhagic stroke than the nonhemorrhagic type.
What is the average lifespan of 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.
Can a low Phe level prevent PKU seizures?
Conclusions: Transient decrease in Phe levels within hyperphenylalaninemic range may be a necessary condition for PKU‐related seizures to occur. A low Phe diet prevents susceptibility to seizures, which can resume with the significant delay after termination of dietary treatment.
What are the symptoms of PKU in adults?
Also rates of fatigue, epilepsy, sleep disturbance, personality disorders, phobias, psychosis and migraines were higher in people with PKU than the general population, but comparable to people with diabetes. An important finding is that there are lower rates of all of the above in younger adults with PKU compared to older adults with PKU.
How does PKU affect the central nervous system?
Because the enzyme is either missing or defective in its activity, serum PHE levels become elevated and harm the developing central nervous system of affected persons. If PKU is not diagnosed in the early weeks of life, the chronically high PHE level causes mental retardation and a variety of other problems.
Can a parent have the defective gene that causes PKU?
This buildup of phenylalanine results in damage to nerve cells in the brain. For a child to inherit PKU, both the mother and father must have and pass on the defective gene. This pattern of inheritance is called autosomal recessive. It’s possible for a parent to be a carrier — to have the defective gene that causes PKU, but not have the disease.