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38 Possible Causes for Plasma Citrulline Low

  • Ornithine Transcarbamylase Deficiency

    Thus the low plasma citrulline level did not validate our initial biochemical suspicion of OTC deficiency, and this highlights the importance of considering all available[ncbi.nlm.nih.gov] The urinary increase of orotic acid, together with low plasma citrulline and arginine, is a diagnostic hallmark of hyperammonemia due to OTCD, in which case genetic studies[symptoma.com] Considerations for testing This test may be appropriate for any individual with: a low citrulline level on newborn screening a low citrulline level on plasma amino acid analysis[invitae.com]

  • Carbamoyl Phosphate Synthetase Deficiency

    plasma citrulline 0003572 Protein avoidance 0002038 Respiratory alkalosis 0001950 Vomiting Throwing up 0002013 Showing of 21 Last updated: 5/1/2019 Making a diagnosis for[rarediseases.info.nih.gov] Laboratory Findings in CPS I Deficiency High plasma ammonia level High plasma glutamine and alanine levels, low plasma citrulline level; low plasma arginine level Absent or[newenglandconsortium.org] Plasma amino acids Plasma amino acids Urine Organic Acids Elevated glutamine Low citrulline No orotic acid Are There Any Factors That Might Affect the Lab Results?[clinicaladvisor.com]

  • Connective Tissue Disease

    plasma proline, citrulline, arginine , and ornithine Clinical features: Hyperammonemia, cataracts, intellectual disability, joint laxity Treatment: Avoidance of fasting Hyperhydroxyprolinemia[merck.com] […] adulthood, benign Treatment: None needed Δ1-Pyrroline-5-carboxylate synthetase deficiency (138250) Δ1-Pyrroline-5-carboxylate synthetase PYCS (10q24.3)* Biochemical profile: Low[merck.com]

  • Fibrolamellar Hepatocellular Carcinoma

    The patient's plasma amino acids revealed low citrulline, arginine, and ornithine, with normal alanine and glutamine.[ncbi.nlm.nih.gov]

  • Organic Aciduria

    plasma proline, citrulline, arginine , and ornithine Clinical features: Hyperammonemia, cataracts, intellectual disability, joint laxity Treatment: Avoidance of fasting Hyperhydroxyprolinemia[msdmanuals.com] The combination of hyperammonemia with low plasma citrulline and arginine is diagnostic of OTCD when orotic acid is increased in the urine, whereas it strongly suggests CPS1D[doi.org] […] adulthood, benign Treatment: None needed Δ1-Pyrroline-5-carboxylate synthetase deficiency (138250) Δ1-Pyrroline-5-carboxylate synthetase PYCS (10q24.3)* Biochemical profile: Low[msdmanuals.com]

  • Hyperalaninemia

    plasma proline, citrulline, arginine , and ornithine Clinical features: Hyperammonemia, cataracts, intellectual disability, joint laxity Treatment: Avoidance of fasting Hyperhydroxyprolinemia[merckmanuals.com] […] adulthood, benign Treatment: None needed Δ1-Pyrroline-5-carboxylate synthetase deficiency (138250) Δ1-Pyrroline-5-carboxylate synthetase PYCS (10q24.3)* Biochemical profile: Low[merckmanuals.com]

  • Citrullinemia Type 2

    […] supplementation Ornithinemia (258870) Ornithine aminotransferase OAT (10q26)* Biochemical profile: Elevated plasma ornithine and urine ornithine, lysine, and arginine ; low[merckmanuals.com] […] diet, citrulline Hyperornithinemia, hyperammonemia, and homocitrullinemia (238970) Mitochondrial ornithine translocase SLC25A15 (13q14)* Biochemical profile: Elevated plasma[merckmanuals.com] citrulline and glutamine, citrullinuria, orotic aciduria Clinical features: Episodic hyperammonemia, growth failure, protein aversion, lethargy, vomiting, coma, seizures,[merckmanuals.com]

  • Renal Tubular Dysfunction

    The plasma amino acid concentrations in these three patients were normal or low.[nejm.org] The most prominent increases were in alanine (up to eightfold elevations), citrulline (up to sevenfold elevations), cystine (up to sevenfold elevations), and lysine (up to[nejm.org]

  • Proximal Renal Tubular Acidosis

    The plasma amino acid concentrations in these three patients were normal or low.[nejm.org] The most prominent increases were in alanine (up to eightfold elevations), citrulline (up to sevenfold elevations), cystine (up to sevenfold elevations), and lysine (up to[nejm.org]

  • Argininosuccinic Aciduria

    They also have moderately increased levels of citrulline and, low levels of arginine and ornithine in their plasma. Two patients succumbed to the disease.[ncbi.nlm.nih.gov] As expected patients had significantly increased levels of phenacetylglutamine and phenyl acetic acid while on low dose arginine with sodium phenyl butyrate, and higher plasma[rarediseasesnetwork.org] […] supplementation Ornithinemia (258870) Ornithine aminotransferase OAT (10q26)* Biochemical profile: Elevated plasma ornithine and urine ornithine, lysine, and arginine ; low[msdmanuals.com]

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