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For a child to inherit PKU, both parents must have and pass on the defective gene. [17] If both parents are carriers for PKU, there is a 25% chance any child they have will be born with the disorder, a 50% chance the child will be a carrier and a 25% chance the child will neither develop nor be a carrier for the disease. [5]
Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L). [1] Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of ...
Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine, resulting in irreversible intellectual disability. In the 1960s, Robert Guthrie developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born.
The law defined the relatively new term "developmental disability" to include specific conditions that originate prior to age 18, are expected to continue indefinitely, and that constitute a substantial handicap. [2] These conditions included intellectual disability, cerebral palsy, epilepsy, autism, and dyslexia. [2]
The Americans with Disabilities Act of 1990 or ADA (42 U.S.C. § 12101) is a civil rights law that prohibits discrimination based on disability. It affords similar protections against discrimination to Americans with disabilities as the Civil Rights Act of 1964 , [ 1 ] which made discrimination based on race , religion , sex , national origin ...
If a child is disabled from a condition that was present prior to the age of 22, they can collect benefits indefinitely. Benefits distributed to children do not decrease your own benefits.
Unconverted phenylalanine builds up in the bloodstream and can lead to levels that are toxic to the developing nervous system of newborn and infant children. The most dangerous form of this is called classic PKU, which is common in infants. The baby seems normal at first but actually incurs permanent intellectual disability.
Section 504 of the Rehabilitation Act of 1973 states (in part): . No otherwise qualified individual with a disability in the United States, as defined in section 705(20) of this title, shall, solely by reason of her or his disability, be excluded from the participation in, be denied the benefits of, or be subjected to discrimination under any program or activity receiving federal financial ...