PEDIATRICS Vol. 89 No. 6 June 1992, pp. 1080-1082
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3-Methylglutaconic Aciduria: A New Variant

Avraham Zeharia MD1, Orly N. Elpeleg MD2, Masza Mukamel MD1, Raphael Weitz MD3, Raya Ariel PhD4, and Marc Mimouni MD1

1 From the Department of Pediatrics B, Beilinson Medical Center, Petah Tiqva, Sackler School of Medicine, Tel Aviv University, Israel
2 From the Metabolic Unit, Shaare Zedek Medical Center, Jerusalem Israel
3 From the Pediatric Neurology Unit, Beilinson Medical Center, Petah Tiqva, Sackler School of Medicine, Tel Aviv University, Israel
4 From the Pediatric Psychology Unit, Beilinson Medical Center, Petah Tiqva, Sackler School of Medicine, Tel Aviv University, Israel

3-Methylglutaconic aciduria has been described in two distinct syndromes. In one there was deficient 3-methylglutaconyl coenzyme A hydratase in fibroblast extracts where the only clinical manifestation was retarded speech development. In the second syndrome, the enzyme activity was normal but prominent neurological deterioration was noted. We describe two siblings with 3-methylglutaconic aciduria with normal enzyme activity who had choreoathetoid movements, optic atrophy, and mild developmental delay. The boy demonstrated developmental improvement in his second year of life, and his sister developed well, with normal school performance. These patients represent a new clinical variant of the second syndrome with a relatively favorable prognosis.

Key Words: 3-methylglutaconic aciduria • metabolism • choreoathetoid movements • optic atrophy • neurological deterioration

Submitted on July 5, 1991
Accepted on November 20, 1991


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