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J Pediatr. 1992 Jul;121(1):83-6.

Glutaric aciduria type I: unusual biochemical presentation.

Author information

1
Servicio Neuropediatria, Hospital Sant Joan de Deu, Barcelona, Spain.

Abstract

We describe a patient with glutaryl-coenzyme A dehydrogenase deficiency, demonstrated by a residual enzyme activity of only 1% in cultured fibroblasts. Although the clinical presentation was typical of glutaric aciduria type I, the urine concentrations of glutaric, glutaconic, and 3-hydroxyglutaric acids remained normal, even during episodes of clinical decompensation. An increased free glutarate level was demonstrated only in cerebrospinal fluid.

PMID:
1625098
[Indexed for MEDLINE]

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