Clinica chimica acta; international journal of clinical chemistry, 95(1), 11-16 (1979-07-02)
The urine of a child who presented with hyperammonemia was found to contain elevated levels of 3-hydroxy-3-methylglutaric acid, 3-methylglutaconic acid and 3-methylglutaric acid. An increased excretion of these organic acids has been reported previously in a child with 3-hydroxy-3-methylglutaryl-CoA lyase
What is the origin of 3-methylglutaconic acid?
R Walsh et al.
Journal of inherited metabolic disease, 22(3), 251-255 (1999-06-29)
Clinica chimica acta; international journal of clinical chemistry, 134(1-2), 59-67 (1983-10-31)
We studied two children who developed normally for the first 3-4 months of life and then displayed a failure-to-thrive syndrome, regression in psychomotor development, pronounced muscular hypotonia, and liver damage. At the age of about 1-2 years, optic atrophy and
Journal of inherited metabolic disease, 15(2), 204-212 (1992-01-01)
The Mendelian disorder known as 3-methylgutaconic aciduria (McKusick 250950) gives evidence of allelic and locus heterogeneity. Type 1 has a mild clinical phenotype and confirmed 3-methylgutaconyl-CoA hydratase deficiency; inheritance is autosomal recessive. Other forms have major clinical manifestations and subdivide
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