Isovaleric Acidemia
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Isovaleric Acidemia Overview

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What is the definition of Isovaleric Acidemia?
Isovaleric acidemia (IVA) occurs when the body cannot breakdown certain parts of the proteins found in food. This can cause a build-up of toxic substances which can lead to bouts of serious illness known as metabolic crises. There are two types of IVA. The acute, neonatal type has more severe symptoms. In the chronic, intermittent type symptoms can come and go. Symptoms include poor feeding, tremor, vomiting, low muscle tone, and lack of energy (lethargy). One characteristic sign of IVA is an odor of sweaty feet during illness. IVA occurs due to variants in the IVD gene and is inherited in an autosomal recessive pattern. Diagnosis of IVD is based on the symptoms, clinical exam, and blood and urine testing. The results of genetic testing may help confirm the diagnosis.
What are the alternative names for Isovaleric Acidemia?
  • Isovaleric acidemia
  • IVA
  • IVD deficiency
  • Isovaleric acid CoA dehydrogenase deficiency
  • Isovaleryl CoA carboxylase deficiency
Who are the top Isovaleric Acidemia Local Doctors?
Elite in Isovaleric Acidemia
Ulrike Mutze
Elite in Isovaleric Acidemia
Ulrike Mutze
Heidelberg, BW, DE 

Ulrike Mutze practices practicing medicine in Heidelberg, Germany. Ms. Mutze is rated as an Elite expert by MediFind in the treatment of Isovaleric Acidemia. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Isovaleric Acidemia, Vitamin B12 Deficiency, Vitamin B12 Deficiency Anemia, and Phenylketonuria (PKU).

Experienced in Isovaleric Acidemia
Dr. Anthony Perszyk
Medical Genetics
Experienced in Isovaleric Acidemia
Dr. Anthony Perszyk
Medical Genetics

St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-8413
Languages Spoken:
English
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. Dr. Perszyk is rated as an Experienced provider by MediFind in the treatment of Isovaleric Acidemia. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Mucolipidosis 3. Dr. Perszyk is board certified in American Board Of Medical Genetics And Genomics.

 
 
 
 
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Distinguished in Isovaleric Acidemia
Regina Ensenauer
Distinguished in Isovaleric Acidemia
Regina Ensenauer
Haid Und Neu Str. 9, 
Karlsruhe, BW, DE 

Regina Ensenauer practices practicing medicine in Karlsruhe, Germany. Ms. Ensenauer is rated as a Distinguished expert by MediFind in the treatment of Isovaleric Acidemia. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Isovaleric Acidemia, Glutaric Acidemia Type 1, Zellweger Syndrome, and Obesity.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center