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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 ...
Fanconi syndrome or Fanconi's syndrome (English: / f ɑː n ˈ k oʊ n i /, / f æ n-/) is a syndrome of inadequate reabsorption in the proximal renal tubules [1] of the kidney.The syndrome can be caused by various underlying congenital or acquired diseases, by toxicity (for example, from toxic heavy metals), or by adverse drug reactions. [2]
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 ...
Postoperative fever refers to an elevated body temperature (≥ 38.5 °C) occurring after a recent surgical procedure. Diagnosing the cause of postoperative fever can sometimes be challenging; while fever in this context may be benign, self-limited, or unrelated to the surgical procedure, it can also be indicative of a surgical complication, such as infection.
Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and severe form of this disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms.
Donald Trump mocked Canadian Prime Minister Justin Trudeau after his top minister’s surprise resignation following a clash on how to handle the president-elect’s looming tariffs.
Chronic pain in patients with ADPKD is often refractory to conservative, noninvasive treatments, but nonopioid analgesics and conservative interventions can be first used before opioid analgesics are considered; if pain continues, then surgical interventions can target renal or hepatic cysts to directly address the cause of pain, with surgical ...
Heidi Montag’s 2010 record “Superficial” is now No. 1 on iTunes after her husband, Spencer Pratt, asked fans to stream the album to help generate income after their house burned down in the ...