|Can IVA be detected very early in life?||Yes.
IVA can be accurately detected by Tandem Mass Spectrometer in the first days of life.
|Does IVA have an existing rapid, high quality, and accurate test?||Yes.
Tandem Mass Spectrometry analyzies the same few blood drops that are taken anyway after birth for PKU testing.
To learn more about tandem mass spectrometry visit one of the following sites:
Save Babies Through Screening
For recent press and additional information please visit the Save Babies Through Screening site.
|Are there safe and effective treatments recognized in the peer-reviewed literature?||Yes.
Treatment of IVA consists of a low-protein diet (namely Leucine), a specialized formula that contains no leucine, and supplements of carnitine and/or glycine.
For more information see:
The Journal of Pediatrics. July 1988. Isovaleric Acidemia: Medical and neurodevelopmental effects of long-term therapy. By Gerard T. Berry, MD. Marc Yudkoff, MD and Stanton Segal, MD. From the Division of Biochemical Development and Molecular Diseases, Department of Pediatrics and Medicine, University of Pennsylvania School of Medicine and Childrens Hospital of Philadelphia.
Isovaleric Acidemia: A Guide for Parents. Sponsored by the Pacific Northwest Regional Genetics Group (PacNoRGG). Christine Cavanaugh. MS, RD. Cristine M. Trahms. MS, RD, Department of Pediatric Genetics and Center on Human Development and Disabilities. Robin Bennett, MS, CGC. Department of Genetics University of Washington, Seattle. And the PacNoRGG Education Committee. 1997 ~ Also available in Spanish.
To review other publications visit the PacNoRGG Website.
|Can early screening change the course of the disease?||Yes.
Untreated IVA can cause severe health problems such as: lethargy, coma, seizures, vomiting, acidosis, ataxia, mental retardation, elevated isovaleric acid, moderate to severe hyperammonemia, hypocalcemia, pancytopenia, neutropenia, thrombocytopenia, and/or anemia, and death soon after birth. Approximately half of the people with IVA died before they could be diagnosed clinically. Nearly half of those that survived [late diagnosis] suffered mental retardation and severe loss of motor skills. Seizures are also common among patients diagnosed late.
Treated IVA patients can lead nearly normal lives, aside from the strict diet, supplements, extra caution in avoiding illnesses and regular monitoring by medical professionals. With early detection of IVA the prognosis and quality of life greatly improves.
For more info on IVA visit the Pediatric Database.
Additional info on IVA & other metabolic disorders can also be found on the Save Babies Through Screening site.
7 years old
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