苯丙酮尿症(PKU)氨基酸快速分析
2009-12-21 14:41
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资料摘要:
Phenylketonuria (PKU) is a genetic inborn error of
metabolism, that is detectable during the first days
of life with appropriate blood testing. The absence
or deficiency of an enzyme that is responsible for
processing the essential amino acid phenylalanine
characterizes PKU.
Without treatment, most infants with PKU develop
mental retardation. Early detection of PKU can
allow patient treatment to prevent mental
retardation, as well as other associated problems.
Treatment consists of a carefully-controlled pherestricted
diet begun during the first days or weeks
of life. Frequent blood monitoring of PKU patients
is necessary, especially during infancy and early
childhood when it is important to keep the blood
phenylalanine levels at the safest level. Biochrom
Amino Acid Analysers are widely used for the
routine analysis of phenylalanine.
Clinical laboratories have a continuous
requirement for analyses of large numbers of
samples. Rapid, accurate analysis is critical to
meet the demand of the screening programmes.
Improvements in peak resolution, accuracy, run
times, and quantitation by using a dedicated
instrument has enabled clinical laboratories to
screen large numbers of samples per week.
Using the Biochrom 30 Amino Acid Analyser
phenylalanine can be rapidly and accurately
quantified using norleucine as internal standard.
The separation is carried out using a 20 cm x 4.6
mm high performance physiological column using
buffer DII predominantly. The program enables
25 analyses to be performed a day. In addition
tyrosine and homocystine are also well resolved
thus enabling screening for the other metabolic
diseases such as Tyronisis and Homocystinuria.
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