Quantification of branched-chain amino acids in blood spots and plasma by liquid chromatography tandem mass spectrometry for the diagnosis of maple syrup urine disease

2011 ◽  
Vol 34 (6) ◽  
pp. 631-639 ◽  
Author(s):  
John Sowell ◽  
Laura Pollard ◽  
Tim Wood
Keyword(s):  
Mass Spectrometry ◽  
Amino Acids ◽  
Liquid Chromatography ◽  
Branched Chain Amino Acids ◽  
Tandem Mass ◽  
Maple Syrup ◽  
Chromatography Tandem Mass Spectrometry ◽  
Liquid Chromatography Tandem Mass ◽  
Urine Disease ◽  
Branched Chain

scholarly journals Leucinosis, or maple syrup urine disease (lecture and a clinical case)

2020 ◽  
Vol 48 (4) ◽  
pp. 254-262
Author(s):  
Ju. A. Tsareva ◽  
N. I. Zryachkin ◽  
M. A. Kuznetsova ◽  
E. V. Bogacheva
Keyword(s):  
Mass Spectrometry ◽  
Amino Acids ◽  
Tandem Mass Spectrometry ◽  
Maple Syrup Urine Disease ◽  
Clinical Case ◽  
Branched Chain Amino Acids ◽  
Tandem Mass ◽  
Maple Syrup ◽  
Urine Disease ◽  
Branched Chain

Maple syrup urine disease (leucinosis, short-chain ketoaciduria, branched-chain disease, branched-chain ketonuria) is an autosomal recessive disorder which is a consequence of the deficient branched-chain alpha ketoacid dehydrogenase complex. There are five subtypes of the disease: classical, intermediate, intermittent, thiamine-dependent and E3-deficient. Leucinosis is characterized by high plasma levels of branched-chain amino acids (leucine, isoleucine and valine) and high urine levels of branched-chain ketoacids, as well as of lactate and pyruvate. Tandem mass spectrometry can be used as a screening method in newborns. Mild disease cannot be identified at screening. The diagnosis should be based on tandem mass spectrometry of a blood sample and aminoacid analysis by gas chromatography of a urine sample. Prenatal diagnosis requires molecular genetic tests. Treatment of maple syrup urine disease is aimed at normalization of plasma branched-chain amino acids levels and includes two main components, namely, life-long diet therapy and active treatment of acute metabolic deterioration episodes. A favorable course of the disease is possible only with early (pre-symptomatic) initiation of treatment. The development of cognitive functions depends on plasma leucine levels. We present a clinical case of delayed diagnosis of leucinosis, despite its early clinical manifestation, leading to irreversible consequences for the patient.

scholarly journals Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Jaraspong Uaariyapanichkul ◽  
Sirinuch Chomtho ◽  
Kanya Suphapeetiporn ◽  
Vorasuk Shotelersuk ◽  
Santi Punnahitananda ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Amino Acids ◽  
Liquid Chromatography ◽  
Pediatric Population ◽  
Reference Intervals ◽  
Specific Reference ◽  
Tandem Mass ◽  
Chromatography Tandem Mass Spectrometry ◽  
Liquid Chromatography Tandem Mass ◽  
Amino Acid Levels

Background. Age, race, and analytic method influence levels of blood amino acids, of which reference intervals are required for the diagnosis and management of inherited metabolic disorders.Objectives. To establish age-specific reference intervals for blood amino acids in Thai pediatric population measured by liquid chromatography tandem mass spectrometry (LC-MS/MS).Methods. A cross-sectional study of 277 healthy children from birth to 12 years was conducted. Anthropometric, clinical, and dietary information were recorded. Dried blood spots on a filtered paper were used for measurement by derivatized LC-MS/MS. Factors that might affect amino acids such as fasting time and dietary intake were analyzed using quantile regression analysis.Results. Levels of thirteen blood amino acids were reported as median and interval from 2.5th–97.5th percentiles. Compared with those of Caucasian, most blood amino acid levels of Thai children were higher. Compared with a previous study using HPLC in Thai children, many amino acid levels are different. Glycine, alanine, leucine/isoleucine, and glutamic acid sharply decreased after birth. Citrulline, arginine, and methionine stayed low from birth throughout childhood, whereas phenylalanine was at middle level and slightly increased during preadolescence.Conclusion. Reference intervals of age-specific blood amino acids using LC-MS/MS were established in the Thai pediatric population. They diverge from previous studies, substantiating the recommendation that, for the optimal clinical practice, age-specific reference intervals of amino acids should be designated for the particular population and analysis method.

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