ArticleJIMD reports2019
Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period.
Article in JIMD reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis ofInternational journal of neonatal screening · 2026Article
- Metabolic profiles and prediction of failure to thrive of citrin deficiency with normal liver function based on metabolomics and machine learning.Nutrition & metabolism · 2025Article
- Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines.Orphanet journal of rare diseases · 2025Article
- Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.Trends in endocrinology and metabolism: TEM · 2022Review
- Differential Effect of Non-Purified and Semi-Purified Standard Diets on Kynurenine and Peripheral Metabolites in Male C57BL/6J Mice.International journal of tryptophan research : IJTR · 2022Article
- Impaired Bile Acid Synthesis in a Taurine-Deficient Cat Model.Advances in experimental medicine and biology · 2022Article
- Successful treatment of adult-onset type II citrullinemia with a low-carbohydrate diet and L-arginine after DNA analysis produced a definitive diagnosis.Clinical journal of gastroenterology · 2020Article
- Impaired bile acid metabolism with defectives of mitochondrial-tRNA taurine modification and bile acid taurine conjugation in the taurine depleted cats.Scientific reports · 2020Article
- Comparison of the amino acid profile between the nontumor and tumor regions in patients with lung cancer.American journal of cancer research · 2020Article
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Authors and funding
19 authors at 13 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCitrin (mitochondrial aspartate-glutamate transporter) deficiency causes the failures in both carbohydrate-energy metabolism and the urea cycle, and the alterations in the serum levels of several amino acids in the stages of newborn (NICCD) and adult (CTLN2). However, the clinical manifestations are resolved between the NICCD and CTLN2, but the reasons are still unclear. This study evaluated the serum amino acid profile in citrin-deficient children during the healthy stage.
methodsUsing HPLC-MS/MS analysis, serum amino acids were evaluated among 20 citrin-deficient children aged 5-13 years exhibiting normal liver function and 35 age-matched healthy controls.
resultsThe alterations in serum amino acids characterized in the NICCD and CTLN2 stages were not observed in the citrin-deficient children. Amino acids involved in the urea cycle, including arginine, ornithine, citrulline, and aspartate, were comparable in the citrin-deficient children to the respective control levels, but serum urea was twofold higher, suggestive of a functional urea cycle. The blood sugar level was normal, but glucogenic amino acids and glutamine were significantly decreased in the citrin-deficient children compared to those in the controls. In addition, significant increases of ketogenic amino acids, branched-chain amino acids (BCAAs), a valine intermediate 3-hydroxyisobutyrate, and β-alanine were also found in the citrin-deficient children.
conclusionThe profile of serum amino acids in the citrin-deficient children during the healthy stage showed different characteristics from the NICCD and CTLN2 stages, suggesting that the failures in both urea cycle function and energy metabolism might be compensated by amino acid metabolism. SYNOPSIS: In the citrin-deficient children during the healthy stage, the characteristics of serum amino acids, including decrease of glucogenic amino acids, and increase of ketogenic amino acids, BCAAs, valine intermediate, and β-alanine, were found by comparison to the age-matched healthy control children, and it suggested that the characteristic alteration of serum amino acids may be resulted from compensation for energy metabolism and ammonia detoxification.
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