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Glutaric acidemia

A metabolic disorder causing progressive choreoathetosis

Cambridge Hospital (Drs. Leibel, Bauman, and Zwerdling), Cambridge, MA, Massachusetts General Hospital (Drs. Shih and Bergman), Boston, MA, B.F. Stolinsky Research Laboratory (Drs. Goodman and McCabe), Department of Pediatrics, University of Colorado Medical Center, Denver, CO, and Massachusetts Institute of Technology (Dr. Costello), Cambridge, MA.

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 -aminobutyric acid and glutamate decarboxylase activity.

Address correspondence and reprint requests to Dr. Shih, Amino Acid Laboratory, Massachusetts General Hospital, Fruit Street, Boston, MA 02114.

Accepted for publication January 18, 1980.

This investigation was supported in part by USPHS Grant No. NS05096, NIH Grants Nos. HD-04024 and HD-08315, and Maternal and Child Health Special Project No. 252.

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