Organic acid profile of isovaleric acidemia: a comprehensive metabolomics approach.
Dercksen, M., et al.
Metabolomics, 9, 765-777 (2013)
Jerry Vockley et al.
American journal of medical genetics. Part C, Seminars in medical genetics, 142C(2), 95-103 (2006-04-08)
Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of derivatives of isovaleryl-CoA. It was the first organic acidemia recognized in humans...
F Salamino et al.
Pediatric research, 36(2), 182-186 (1994-08-01)
When a 12-y-old girl suffering from isovaleric acidemia was treated with L-carnitine, there was a considerable increase in her blood and urine concentration of isovalerylcarnitine. When later the patient received an infusion of glycine in place of carnitine, isovalerylcarnitine reverted...
M F Silva et al.
Clinical biochemistry, 34(8), 635-638 (2002-02-19)
The effect of administration of the antiepileptic drug valproate (VPA), on the composition of the plasma acylcarnitine profile (including free carnitine) was investigated. Plasma samples were obtained from 18 individuals (13 males:5 females; 15-65 y) on long-term treatment with VPA...
M H Fries et al.
The Journal of pediatrics, 129(3), 449-452 (1996-09-01)
To assess the effectiveness of glycine and carnitine therapy on isovaleryl conjugate excretion in isovaleric acidemia (IVA). 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...