Propionylglycine

Optimal Result: 0 - 0 mmol/mol creatinine.

Propionylglycine is a N-acylglycine obtained by formal condensation of the carboxy group of propionic acid with the amino group of glycine. It has a role as a human urinary metabolite. It is functionally related to a propionic acid. It is a conjugate acid of a propionylglycinate. Propionylglycine is an acyl glycine. Acyl glycines are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. In certain cases the measurement of these metabolites in body fluids can be used to diagnose disorders associated with mitochondrial fatty acid beta-oxidation. Acyl glycines are produced through the action of glycine N-acyltransferase. The level of propionylglycine is elevated in patients with propionic acidemia, which is an inherited deficiency of propionyl-CoA carboxylase. Propionic acidemia is a rare metabolic disorder. Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, listlessness (lethargy), dehydration and seizures. Without appropriate treatment, coma and death may result. Rarely, the condition may become apparent later in life and may be associated with less severe symptoms and findings. Propionic acidemia is inherited in an autosomal recessive pattern. Individuals with this condition have to follow a specific diet including a low protein intake and specific food formulas (medical foods). Liver transplant is a surgical option that can help decrease the frequency of acute metabolic episodes (decompensation).

References:

National Center for Biotechnology Information. PubChem Compound Summary for CID 98681, N-Propionylglycine. https://pubchem.ncbi.nlm.nih.gov/compound/N-Propionylglycine. Accessed May 24, 2023.

Links:

https://rarediseases.org/rare-diseases/propionic-acidemia/#disease-overview-main

What does it mean if your Propionylglycine result is too high?

The level of propionylglycine is elevated in patients with propionic acidemia, which is an inherited deficiency of propionyl-CoA carboxylase. 

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