NCC Knowledge Nugget Series: Isovaleric Acidemia ACT Sheet-Isovaleric Acidemia Knowledge Nugget

Video Transcription

Video Summary

The video discusses newborn screening for isovaleric acidemia, a genetic disorder caused by pathogenic variants in the IVD gene, leading to a toxic buildup of isovaleric acid. Symptoms range from mild to life-threatening, with two primary types: acute neonatal and intermittent later-onset. The disorder is inherited in an autosomal recessive manner, with newborn screening involving examining acylcarnitine levels. If a positive result is found, immediate actions are needed, including contacting the family, clinical evaluation, genetic counseling, and confirmatory testing. Lifelong management includes a protein-restricted diet and L-carnitine supplementation. The session stresses the importance of early identification through newborn screening for prompt treatment.

Keywords

newborn screening

isovaleric acidemia

IVD gene

genetic disorder

acylcarnitine levels