Other Names for this Disease
- Isovaleric acid CoA dehydrogenase deficiency
- Isovaleryl CoA carboxylase deficiency
- IVD deficiency
Your QuestionMy baby died 13 days after birth. The doctors performed some blood tests which indicated that the baby had isovaleric acidemia. Additional testing, only available in the UK was recommended. Unfortunately, the lab would not accept blood without urine. What are the chances that my future child(ren) will also have this condition?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods.Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition.
We encourage you to consult with a genetics professional who can discuss with you at length your risk to have another child with isovaleric acidemia. Information about how to find a genetics professional can be found through the Services tab.
- Isovaleric acidemia. Genetics Home Reference (GHR). 2007; http://www.ghr.nlm.nih.gov/condition/isovaleric-acidemia. Accessed 5/9/2011.
- Organic Acid Oxidation Disorders: Isovaleric Acidemia. Screening, Technology and Research in Genetics (STAR-G). 2008; http://www.newbornscreening.info/Parents/organicaciddisorders/IVA.html. Accessed 5/9/2011.
- Isovaleric acidemia. Genetics Home Reference. April 2007; http://www.ghr.nlm.nih.gov/condition/isovaleric-acidemia. Accessed 3/30/2012.
- Isovaleric acidemia. Orphanet. 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=33. Accessed 5/9/2011.
- Babys First Test Isovaleric Acidemia. Baby's First Test. http://www.babysfirsttest.org/conditions/IVA. Accessed 12/5/2011.
- Seashore MR. The Organic Acidemias: An Overview - Genetic Counseling Section. GeneReviews. 2009; http://www.ncbi.nlm.nih.gov/books/NBK1134/#oa-overview.Genetic_Counseling. Accessed 5/9/2011.