Homocitrullinuria and homoargininuria in lysinuric protein intolerance

Kato, Tomoaki; Sano, M.; Mizutani, Naoki

doi:10.1007/bf01800719

Cited by 11 publications

(5 citation statements)

References 9 publications

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“…The elevated homoarginine levels we measured in the ASSdeficient patient, were also reported in several other urea-cycle disorders [17,33]. Kato suggested that this elevation is the result of decreased degradation of lysine, increasing its availability as substrate for AGAT-catalyzed homoarginine synthesis [34].…”

Section: Discussionsupporting

confidence: 76%

Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine

et al. 2012

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a b s t r a c tLow plasma homoarginine has emerged as a risk marker for cardiovascular disease. We exploited cells of a patient with a rare inborn error of metabolism to explore potential pathways of homoarginine synthesis, using stable isotopes and mass spectrometry. Control lymphoblasts, as opposed to lymphoblasts from an arginine:glycine amidinotransferase (AGAT)-deficient patient, were able to synthesize homoarginine from arginine and lysine. In contrast, in a patient with a deficiency of the urea cycle enzyme argininosuccinate synthase, plasma homoarginine was not decreased. We conclude that promiscuous activity of AGAT, a key enzyme in creatine synthesis, plays a pivotal role in homoarginine synthesis.

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Section: Discussionsupporting

confidence: 76%

Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine

et al. 2012

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“…Plasma concentrations of these dibasic amino acids are usually low but sometimes can be within the normal range [3]. Review of literature revealed only two descriptions of homocitrullinuria in LPI patients [1,2]. Here, we report 3 the clinical, biochemical and molecular findings in a child with LPI who had significant homocitrulline excretion in the urine.…”

Section: Introductionmentioning

confidence: 82%

Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance

et al. 2013

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“…1c ). The presence of homocitrulline is not only known for citrullinemia type I, but can also be found in other conditions such as hyperammonemia-hyperornithinemia-homocitrullinuria (HHH) syndrome, hyperlysinemia (Hommes et al 1983 ), lysinuric protein intolerance (LPI) (Kato et al 1989 ), and certain artificial formulas (Metwalli et al 1998 ). Our patient with citrullinemia type I, did not get artificial formula feeding.…”

Section: Discussionmentioning

confidence: 99%

Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass‐spectrometry

Prinsen

Schiebergen-Bronkhorst

Roeleveld

et al. 2016

J of Inher Metab Disea

141

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BackgroundAmino acidopathies are a class of inborn errors of metabolism (IEM) that can be diagnosed by analysis of amino acids (AA) in plasma. Current strategies for AA analysis include cation exchange HPLC with post-column ninhydrin derivatization, GC-MS, and LC-MS/MS-related methods. Major drawbacks of the current methods are time-consuming procedures, derivative problems, problems with retention, and MS-sensitivity. The use of hydrophilic interaction liquid chromatography (HILIC) columns is an ideal separation mode for hydrophilic compounds like AA. Here we report a HILIC-method for analysis of 36 underivatized AA in plasma to detect defects in AA metabolism that overcomes the major drawbacks of other methods.MethodsA rapid, sensitive, and specific method was developed for the analysis of AA in plasma without derivatization using HILIC coupled with tandem mass-spectrometry (Xevo TQ, Waters).ResultsExcellent separation of 36 AA (24 quantitative/12 qualitative) in plasma was achieved on an Acquity BEH Amide column (2.1×100 mm, 1.7 μm) in a single MS run of 18 min. Plasma of patients with a known IEM in AA metabolism was analyzed and all patients were correctly identified.ConclusionThe reported method analyzes 36 AA in plasma within 18 min and provides baseline separation of isomeric AA such as leucine and isoleucine. No separation was obtained for isoleucine and allo-isoleucine. The method is applicable to study defects in AA metabolism in plasma.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-016-9935-z) contains supplementary material, which is available to authorized users.

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Homocitrullinuria and homoargininuria in lysinuric protein intolerance

Cited by 11 publications

References 9 publications

Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine

Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine

Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance

Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass‐spectrometry

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