Isovaleric acidemia: Response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy
| Autor: | Eberhard Schmidt-Sommerfeld, Melissa H. Fries, Seymour Packman, Piero Rinaldo, Elena Jurecki |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Oxidoreductases Acting on CH-CH Group Donors
medicine.medical_specialty Metabolite Glycine Urine Excretion chemistry.chemical_compound Hemiterpenes Leucine Carnitine Internal medicine Humans Medicine Isovaleryl-CoA dehydrogenase Child Pentanoic Acids Amino Acid Metabolism Inborn Errors Isovaleryl-CoA Dehydrogenase business.industry Isovaleric Acidemia Endocrinology chemistry Pediatrics Perinatology and Child Health Female Oxidoreductases business medicine.drug |
| Zdroj: | The Journal of Pediatrics. 129:449-452 |
| ISSN: | 0022-3476 |
| DOI: | 10.1016/s0022-3476(96)70081-1 |
| Popis: | OBJECTIVE: To assess the effectiveness of glycine and carnitine therapy on isovaleryl conjugate excretion in isovaleric acidemia (IVA). STUDY DESIGN: Urinary isovalerylglycine (IVG) and isovalerylcarnitine (IVC) were measured from 12-hour urine specimens collected overnight from an 8-year-old patient with IVA (who had no residual activity of isovaleryl-CoA dehydrogenase in fibroblasts) before and during 3-week courses of supplementation with glycine alone (250 mg/kg per day), L-carnitine alone (100 mg/kg per day) therapy, and both of these agents combined, with a 2 gm leucine challenge performed at the end of each treatment period. RESULTS: Isovalerylglycine was the predominant metabolite excreted throughout the study, and its mean value doubled with glycine treatment. Isovalerylcarnitine excretion was minimal without carnitine supplementation. L-Carnitine therapy was associated with a 50% decline in excretion of IVG without a fully compensatory increase in IVC. The readdition of glycine to the carnitine regimen resulted in an increase in IVG excretion. Leucine challenge resulted in a 2.7- and 2.4-fold increase of IVG and IVC excretion, respectively, during L-carnitine therapy but not during glycine supplementation, and a 3.5- and 4-fold increase in excretion of both metabolites during glycine plus L-carnitine therapy. Total conjugate excretion was highest after a leucine load during combined glycine and L-carnitine therapy. CONCLUSIONS: Combined glycine and L-carnitine therapy maximally increases isovaleryl conjugate excretion during metabolic stress but not under stable conditions. (J P EDIATR 1996;129:449-52) |
| Databáze: | OpenAIRE |
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