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Phenylketonuria is an inherited genetic disorder. It is caused by mutations in the PAH gene, which can result in inefficient or nonfunctional phenylalanine hydroxylase, an enzyme responsible for the metabolism of excess phenylalanine. This results in the buildup of dietary phenylalanine to potentially toxic levels.
Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood. Phenylketonuria (PKU) can result in severe hyperphenylalaninemia. [2] Phenylalanine concentrations are routinely screened in newborns by the neonatal heel prick (Guthrie test), which takes a few ...
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of ...
Phenylketonuria is an example, [41] with publications documenting the capacity of treated phenylketonuria to produce a reduction of 10 IQ points on average. [42] Meta-analyses have found that environmental factors, such as iodine deficiency , can result in large reductions in average IQ; iodine deficiency has been shown to produce a reduction ...
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 phenylalanine hydroxylase, which converts the amino acid phenylalanine to ...
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]
The International PKU Day was launched in 2013 and is taking place on 28 June every year. It was inspired by the Rare Disease Day and should increase the awareness for Phenylketonuria to get featured in news. [12] This date was chosen because of the birthdays of both Robert Guthrie (born 28 June 1916) and Horst Bickel (born 28 June 1918). As ...
That having been said, people who got the weight loss drug did lose weight: After 12 weeks, participants on the highest dose had lost an average of 13.1% of their body weight, compared with an ...