Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis
RL Leibel, VE Shih, SI Goodman, ML Bauman… - Neurology, 1980 - AAN Enterprises
RL Leibel, VE Shih, SI Goodman, ML Bauman, ERB McCabe, RG Zwerdling, I Bergman…
Neurology, 1980•AAN EnterprisesA boy with glutaric acidemia had psychomotor retardation first noted at age 6 months,
recurrent metabolic acidosis, and a progressive quadriparesis with choreoathetosis. He died
at age 31/2 years. Cultured skin fibroblasts lacked glutaryl-CoA dehydrogenase activity.
There was a biochemical, but not a clinical, response to dietary restriction of lysine and
tryptophan. The caudate and putamen of the brain showed severe loss of nerve cells and
fibers with proliferation of astrocytes, as well as markedly reduced γ-aminobutyric acid and …
recurrent metabolic acidosis, and a progressive quadriparesis with choreoathetosis. He died
at age 31/2 years. Cultured skin fibroblasts lacked glutaryl-CoA dehydrogenase activity.
There was a biochemical, but not a clinical, response to dietary restriction of lysine and
tryptophan. The caudate and putamen of the brain showed severe loss of nerve cells and
fibers with proliferation of astrocytes, as well as markedly reduced γ-aminobutyric acid and …
A boy with glutaric acidemia had psychomotor retardation first noted at age 6 months, recurrent metabolic acidosis, and a progressive quadriparesis with choreoathetosis. He died at age 31/2 years. Cultured skin fibroblasts lacked glutaryl-CoA dehydrogenase activity. There was a biochemical, but not a clinical, response to dietary restriction of lysine and tryptophan. The caudate and putamen of the brain showed severe loss of nerve cells and fibers with proliferation of astrocytes, as well as markedly reduced γ-aminobutyric acid and glutamate decarboxylase activity.
American Academy of Neurology