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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.
Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5); if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues.
Ketonuria. Ketonuria is a medical condition in which ketone bodies are present in the urine. It is seen in conditions in which the body produces excess ketones as an indication that it is using an alternative source of energy. It is seen during starvation or more commonly in type 1 diabetes mellitus. Production of ketone bodies is a normal ...
A urologist explains what to watch out for in your urine’s color, clarity and odor. Skip to main content. 24/7 Help. For premium support please call: 800-290-4726 ...
Abnormal urine color. Specialty. Urology. Urine samples of varying color and clarity from a study on body fluids. The two samples on the left are considered normal. Normally, human urine color is straw-yellow. [1] Urine color other than straw-yellow sometimes reflects an abnormality—an underlying pathological condition—in human beings.
It appears to cross the blood–brain barrier less efficiently than L-phenylalanine, and so a small amount of an ingested dose of D-phenylalanine is excreted in the urine without penetrating the central nervous system. [24] L-Phenylalanine is an antagonist at α 2 δ Ca 2+ calcium channels with a K i of 980 nM. [25]
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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 ...