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
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
European journal of pediatrics, 146(5), 484-488 (1987-09-01)
Persistent excretion of 3-methylglutaconic acid was found in a 6-month-old infant with multiple minor physical malformations and delayed development. During two episodes of intercurrent viral illness, the patient developed severe metabolic acidosis and excreted large amounts of lactate, 3-hydroxybutyrate and
3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case.
K M Gibson et al.
Journal of inherited metabolic disease, 15(3), 363-366 (1992-01-01)
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