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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 ...
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 ...
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology, a science based on the study of the
This line of defense did not wash, and on Thursday the court found 46 of the defendants guilty of rape, two of attempted rape, and two of sexual assault. Dominique Pelicot, who admitted his guilt ...
Some Democratic lawmakers are pressuring the Biden administration to take further action on student loans before President-elect Donald Trump takes office, including finalizing some debt ...
Anemia, newborn jaundice [2] [1] Usual onset: Within a few days of a trigger [2] Causes: Genetic (X-linked recessive) [1] Risk factors: Triggered by infections, certain medication, stress, foods such as fava beans [1] [3] Diagnostic method: Based on symptoms, blood test, genetic testing [2] Differential diagnosis
Donald Duck got a spicy sit-down on “Hot Ones.” VP Kamala Harris had no such luck. Not that it would have changed the outcome of the election, but the Harris campaign had wanted the Democratic ...
A viral infection does not always cause disease. A viral infection simply involves viral replication in the host, but disease is the damage caused by viral multiplication. [5] An individual who has a viral infection but does not display disease symptoms is known as a carrier. [17] Mechanisms by which viruses cause damage and disease to host cells