4316 T3D4262 3-Hydroxymethylglutaric acid 3-Hydroxymethylglutaric acid is a metabolite that accumulates in the urine of patients affected by 3-Hydroxy-3-methylglutaric aciduria, a rare inborn error of metabolism (OMIM 246450). 3-Hydroxy-3-methylglutaric aciduria is caused by reduced enzyme activity of the intramitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase (EC 4.1.3.4), the enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. The profile of urinary organic acids is different from that of the other identified defects of leucine degradation--maple syrup urine disease (OMIM 248600), isovaleric acidemia (OMIM 243500), and methylcrotonylglycinemia (OMIM 210200). Clinical manifestations include hepatomegaly, lethargy or coma and apnoea. Biochemically there is a characteristic absence of ketosis with hypoglycemia, acidosis, hipertransaminasemia and variable hyperammoniemia. The urinary organic acid profile includes elevated concentrations of 3-hydroxy-3-isovaleric, 3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids. (A3352, A3353, A3354). 503-49-1 1662 C6H10O5 162.14 White powder. 105°C No indication of carcinogenicity to humans (not listed by IARC). This is an endogenously produced metabolite found in the human body. It is used in metabolic reactions, catabolic reactions or waste generation. Chronically high levels of 3-hydroxymethylglutaric acid are associated with the inborn error of metabolism: 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. 2014-08-29T06:09:33Z 2026-05-14T18:07:55Z 3-Hydroxy-3-methylglutaric acid C03761 16831 DB04377 MAH true CC(O)(CC(O)=O)CC(O)=O C6H10O5 InChI=1S/C6H10O5/c1-6(11,2-4(7)8)3-5(9)10/h11H,2-3H2,1H3,(H,7,8)(H,9,10) NPOAOTPXWNWTSH-UHFFFAOYSA-N 162.1406 162.05282343 Endogenous Solid -0.75 HMDB00355 CHEMBL50444 1600 <p>Luigi Turbanti, Giorgio Garzelli, &#8220;Process for preparation of 3-hydroxy-3-methyl-glutaric acid.&#8221; U.S. Patent US4966993, issued October, 1985.</p> CHEM003222 DTXSID90198304 3-hydroxy-3-methylpentanedioic acid 94.83000000000001 34.1377 14.545141112043254 4 5 3 3.6777896096277964 -3.0082279564358467 -2 0 -0.88 0.23 2.75e+02 g/l