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PKU was the first disorder to be routinely diagnosed through widespread newborn screening. Robert Guthrie introduced the newborn screening test for PKU in the early 1960s. [67] With the knowledge that PKU could be detected before symptoms were evident, and treatment initiated, screening was quickly adopted around the world.
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 ...
Kuru is a rare, incurable, and fatal neurodegenerative disorder that was formerly common among the Fore people of Papua New Guinea.Kuru is a form of prion disease which leads to tremors and loss of coordination from neurodegeneration.
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Molluscum contagiosum (MC), sometimes called water warts, is a viral infection of the skin that results in small raised pink lesions with a dimple in the center. [1] They may become itchy or sore, and occur singularly or in groups. [1] Any area of the skin may be affected, with abdomen, legs, arms, neck, genital area, and face being the most ...
Cutaneous leishmaniasis is the most common form of leishmaniasis affecting humans. [4] It is a skin infection caused by a single-celled parasite that is transmitted by the bite of a phlebotomine sand fly. There are about thirty species of Leishmania that may cause cutaneous leishmaniasis.
Rickettsialpox is a mite-borne infectious illness caused by bacteria of the genus Rickettsia (Rickettsia akari). [1] Physician Robert Huebner and self-trained entomologist Charles Pomerantz played major roles in identifying the cause of the disease after an outbreak in 1946 in a New York City apartment complex, documented in "The Alerting of Mr. Pomerantz," an article by medical writer Berton ...
A rare fungal infection thought to mainly occur in the northern Midwest and parts of the Southeast is more common in other parts of the U.S. than expected, new research published Wednesday finds ...