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Treatment is with a diet that (1) is low in foods that contain phenylalanine, and which (2) includes special supplements. Babies should use a special formula with a small amount of breast milk. The diet should begin as soon as possible after birth and be continued for life. [2]
Overall life expectancy: 70.2. Women: 74.1. Men: 66.6. About a decade after the 1957-58 pandemic, yet another flu pandemic killed about 100,000 people in the U.S. and more than 1 million worldwide.
A small subset of patients with hyperphenylalaninemia shows an appropriate reduction in plasma phenylalanine levels with dietary restriction of this amino acid; however, these patients still develop progressive neurologic symptoms and seizures and usually die within the first 2 years of life ("malignant" hyperphenylalaninemia).
Newborn screening programs initially used screening criteria based largely on criteria established by JMG Wilson and F. Jungner in 1968. [6] Although not specifically about newborn population screening programs, their publication, Principles and practice of screening for disease proposed ten criteria that screening programs should meet before being used as a public health measure.
Mason van Dyk (born 2013), despite being given a life expectancy of one to five days, was 5 years old as of July 2018. [35] Doctors told his mother, Lisa van Dyk, that he was the first case of harlequin ichthyosis in South Africa, and that she has a one-in-four chance of having another child with the disease. [36]
[2] Adults born preterm have higher all-cause mortality rates as compared to full-term adults. Premature birth is associated with a 1.2x to 1.6x increase in all-cause mortality rates during early to mid-adulthood. Those born extremely prematurely (22–27 weeks) have an even higher mortality rate of 1.9x to 4.0x. [3]
The frequency of this disease varies greatly. Specifically, in the United States, PKU is found at a rate of nearly 1 in 10,000 births. Due to newborn screening, doctors are able to detect PKU in a baby sooner. This allows them to start treatment early, preventing the baby from suffering from the severe effects of PKU.
World map of infant mortality rates in 2017. Infant mortality is the death of an infant before the infant's first birthday. [1] The occurrence of infant mortality in a population can be described by the infant mortality rate (IMR), which is the number of deaths of infants under one year of age per 1,000 live births. [1]