Learn About Isovaleric Acidemia

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.
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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?
TW
Dr. Tao Wang
Pediatrics | Medical Genetics
Advanced
Highly rated in
1
conditions
Pediatrics
Medical Genetics

Johns Hopkins Health System

The Johns Hopkins Hospital

1800 Orleans St, 
Baltimore, MD 
 51.1 mi

Tao Wang is a Pediatrics specialist and a Medical Genetics doctor in Baltimore, Maryland. Dr. Wang has been practicing medicine for over 39 years and is rated as an Advanced doctor by MediFind in the treatment of Isovaleric Acidemia. He is also highly rated in 1 other condition, according to our data. His top areas of expertise are Isovaleric Acidemia and Chromosome 10q Deletion. Dr. Wang is currently accepting new patients.

CG
Dr. Christina L. Grant
Pediatrics | Medical Genetics
Advanced
Highly rated in
3
conditions
Pediatrics
Medical Genetics

Childrens National

Children's National Hospital Division Of Neurology

111 Michigan Ave Nw, 
Washington, DC 
 26.9 mi

Christina Grant is a Pediatrics specialist and a Medical Genetics doctor in Washington, Washington, D.c.. Dr. Grant has been practicing medicine for over 11 years and is rated as an Advanced doctor by MediFind in the treatment of Isovaleric Acidemia. She is also highly rated in 3 other conditions, according to our data. Her top areas of expertise are Isovaleric Acidemia, Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A), Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), and Mucopolysaccharidoses (MPS). Dr. Grant is currently accepting new patients.

 
 
 
 
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PT
Dr. Pranoot X. Tanpaiboon
Medical Genetics | Pediatrics
Advanced
Highly rated in
21
conditions
Medical Genetics
Pediatrics

Childrens National

Main Hospital

111 Michigan Ave Nw, 
Washington, DC 
 26.9 mi

Pranoot Tanpaiboon is a Medical Genetics specialist and a Pediatrics doctor in Washington, Washington, D.c.. Dr. Tanpaiboon has been practicing medicine for over 26 years and is rated as an Advanced doctor by MediFind in the treatment of Isovaleric Acidemia. She is also highly rated in 21 other conditions, according to our data. Her top areas of expertise are Pompe Disease, Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A), Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), and Farber Lipogranulomatosis. Dr. Tanpaiboon is currently accepting new patients.

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What are the latest Isovaleric Acidemia Clinical Trials?
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
Enrollment Status: Recruiting
Publish Date: January 26, 2023

Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...

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Who are the sources who wrote this article ?

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

What are the Latest Advances for Isovaleric Acidemia?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.