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PAH deficiency causes a spectrum of disorders, including classic phenylketonuria (PKU) and mild hyperphenylalaninemia (also known as "hyperphe" or "mild HPA"), [24] a less severe accumulation of phenylalanine. Compared to classic PKU patients, patients with "hyperphe" have greater PAH enzyme activity and are able to tolerate larger amounts of ...
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 ...
[65] [66] During urinary tract infections, waste products of bacterial metabolism can cause the urine to become alkaline. [67] Urine pH may be monitored to help prevent the formation of kidney stones or to avoid side effects of some drugs, [ 68 ] such as high-dose methotrexate therapy, in which crystals that cause kidney damage can form if the ...
The blood of a two-week-old infant is collected for a PKU screening. A common example of pleiotropy is the human disease phenylketonuria (PKU). This disease causes mental retardation and reduced hair and skin pigmentation , and can be caused by any of a large number of mutations in the single gene on chromosome 12 that codes for the enzyme ...
Police have issued an arrest warrant for a Houston man they allege fled the country after he kidnapped two women in November. Corey Pritchett Jr., 26, is accused of kidnapping the women after they ...
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This is a fascinating matchup between two of the most creative offensive minds in college football. Dillingham has schemed an offense that has scored 53 TDs this season while Texas coach Steve ...
Pregnant women with PKU must control their blood phenylalanine levels even if the fetus is heterozygous for the defective gene because the fetus could be adversely affected due to hepatic immaturity. [medical citation needed] A non-food source of phenylalanine is the artificial sweetener aspartame. This compound is metabolized by the body into ...