Glutaric aciduria type I: unusual biochemical presentation.
case_report · Level V
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- Record sourced from PubMed, PMID 1625098.
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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.
Medical subject headings
- Glutarates
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors