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Isovaleric Acidemia: A Novel Mutation with Mild Phenotype
ISSN: 1929 - 5634
Publisher: author
Isovaleric Acidemia: A Novel Mutation with Mild Phenotype
Indexed in
Health Sciences
ARTICLE-FACTOR
1.3
Article Basics Score: 2
Article Transparency Score: 2
Article Operation Score: 3
Article Articles Score: 2
Article Accessibility Score: 3
SUBMIT PAPER ASK QUESTION
International Category Code (ICC):
ICC-0702
Publisher: Lifescience Global Inc.
International Journal Address (IAA):
IAA.ZONE/1929107685634
eISSN
:
1929 - 5634
VALID
ISSN Validator
Abstract
Isovaleric Acidemia (IVA) is considered a severe metabolic disorder with significant morbidity and mortality. It is caused by deficiency of the enzyme Isovaleryl-CoA dehydrogenase (IVD). Early treatment with carnitine and glycine reduces the episodes of the severe metabolic crises. With the advent of neonatal screening, IVD deficiency has shown a spectrum of severity. We describe a novel homozygous mutation, R332L, in the IVD enzyme with a benign phenotype.
