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Phenylalanine concentrations are routinely screened in newborns by the neonatal heel prick (Guthrie test), which takes a few drops of blood from the heel of the infant. Standard phenylalanine concentrations in unaffected persons are about 2-6mg/dl (120–360 μmol/L) phenylalanine concentrations in those with untreated hyperphenylalaninemia can ...
Reference ranges (reference intervals) for blood tests are sets of values used by a health professional to interpret a set of medical test results from blood samples. Reference ranges for blood tests are studied within the field of clinical chemistry (also known as "clinical biochemistry", "chemical pathology" or "pure blood chemistry"), the ...
Typically, the parameter methylmalonic acid is only tested if propionylcarnitine was previously elevated. [48] Because of the inability to properly break down amino acids completely, the byproduct of protein digestion, the compound methylmalonic acid, is found in a disproportionate concentration in the blood and urine of those afflicted.
The test has been widely used in the life insurance industry to screen applicants as part of the routine requirements when applying for a life insurance policy. It is also inexpensive and can be measured from blood samples routinely drawn as part of the application process. The test can be used to evaluate for a number of health conditions.
The Van Slyke determination is a chemical test for the determination of amino acids containing a primary amine group. It is named after the biochemist Donald Dexter Van Slyke (1883-1971). [1] One of Van Slyke's first professional achievements was the quantification of amino acids by the Van Slyke determination reaction. [2]
It is the most abundant protein in human blood plasma; it constitutes about half of serum protein. It is produced in the liver. It is soluble in water, and it is monomeric. [citation needed] Albumin transports hormones, fatty acids, and other compounds, buffers pH, and maintains oncotic pressure, among other functions.
Alanine transaminase (ALT), also known as alanine aminotransferase (ALT or ALAT), formerly serum glutamate-pyruvate transaminase (GPT) or serum glutamic-pyruvic transaminase (SGPT), is a transaminase enzyme (EC 2.6.1.2) that was first characterized in the mid-1950s by Arthur Karmen and colleagues. [1]
Their red blood cells contain both hemoglobin C and either normal hemoglobin A or hemoglobin S. Hemoglobin C mutation is an autosomal recessive disorder that results from the biparental inheritance of the allele that encodes for hemoglobin C. [6] If both parents are carriers of hemoglobin C, there is a chance of having a child with hemoglobin C ...