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3 Possible Causes for Urine Propionyl Glycine Increased

  • Propionic Acidemia

    Urine analysis by gas chromatography-mass spectrometry reveals a characteristic pattern with 3 hydroxy propionate, methyl citrate, propionyl glycine and propionyl carnitine[orpha.net] Symptomatic cases present during metabolic decompensation with acidosis, ketosis, increased anion gap, hyperlactatemia, hyperglycinemia, hyperammonemia, hypoglycemia and cytopenias[orpha.net]

  • 2-Methylbutyryl-CoA Dehydrogenase Deficiency

    glycine. 2-Methylbutyrylglycine has also been found in the urine of patients with propionyl-CoA carboxylase deficiency after consuming isoleucine. 2-methylbutyrylglycine[sigmaaldrich.com] In the second category affected patients are diagnosed because they presented clinically with seizures and psychomotor delay and have increased urinary excretion of 2-methylbutyryl[sigmaaldrich.com]

  • Hyperglycinemia

    Methyl citrate, 3-hydroxy propionate, propionyl glycine, tiglate, and tiglyl glycine should be increased in the urine.[emedicine.medscape.com] Urine analysis by gas chromatography-mass spectrometry reveals a characteristic pattern with 3 hydroxy propionate, methyl citrate, propionyl glycine and propionyl carnitine[orpha.net] Diagnosis is confirmed when molecular genetic testing reveals a pathogenic variant in PCCA or PCCB or when there is deficient propionyl-CoA carboxylase enzyme activity.[emedicine.medscape.com]

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