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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.
Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues. The condition was named after the yellowish (ocher -like) discoloration of the tissue seen on microscopic examination. Macroscopically, though, the affected tissues appear bluish-grey because of a light-scattering phenomenon known as the Tyndall effect.
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 ...
Phenylalanine is a precursor to melanin, a compound in the body that produces skin color. Protein synthesis: Some athletes and bodybuilders might take phenylalanine supplements as part of their ...
Hartnup disease has an autosomal recessive pattern of inheritance.. Hartnup disease (also known as "pellagra-like dermatosis" [1] and "Hartnup disorder" [2]) is an autosomal recessive [3] metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and niacin).
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 ...
Perioral Dermatitis. Perioral dermatitis is a red rash that appears around your mouth and nose and causes red, inflamed, swollen bumps on the lower half of your face, says Dr. Parikh. The rash is ...
Lesch–Nyhan syndrome. Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births. [3]