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3-Hydroxy-3-methylglutaric aciduria

HMG CoA lyase deficiencyDeficiency of hydroxymethylglutaryl-CoA lyase3-Hydroxy-3 Methylglutaryl-CoA Lyase Deficiency (HMG)
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "3-Hydroxy-3-methylglutaric aciduria" returned 4 free, full-text research articles. First few results:
Prevention by L-carnitine of DNA damage induced by 3-hydroxy-3-methylglutaric and 3-methylglutaric acids and experimental evidence of lipid and DNA damage in patients with 3-hydroxy-3-methylglutaric aciduria.
Last Updated: Feb 27, 2020

3-hydroxy-3-methylglutaric aciduria (HMGA) is an inherited disorder of the leucine catabolic pathway in which occurs a deficiency of the 3-hydroxy-3-methylglutaryl-CoA lyase enzyme. Therefore, the organic acids 3-hydroxy-3-methylglutaric (HMG) and 3-methylglutaric (MGA), mainly, accumulate ...

Newborn screening for 3-hydroxy-3-methylglutaric aciduria using direct analysis in real-time mass spectrometry.
Last Updated: Jul 10, 2019

A novel method utilizing ambient thermal desorption ionization with a direct analysis in real-time source integrated with mass spectrometry (DART-MS) was established and applied to the rapid analysis of 3-hydroxy-3-methylglutaric (3-HMG) acid in the neonatal urine. Instrument parameter ...

Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria.
Last Updated: Nov 13, 2018

3-hydroxy-3-methylglutaric aciduria (HMGA; OMIM 246450) is a rare autosomal recessive disorder, caused by the deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase (4.1.3.4), which results in the accumulation of 3-hydroxy-3-methylglutaric (HMG) and 3-methylglutaric (MGA) acids in tissues ...

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