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

Isovaleric Acidemia ACT Sheet

Pdf Summary

The document is an ACT sheet designed as an educational resource for medical geneticists and clinicians, providing guidance on newborn screening for conditions like Isovaleric Acidemia. It emphasizes that adherence is voluntary and may not guarantee successful outcomes. The resource outlines immediate actions for clinicians upon encountering elevated C5 Acylcarnitine levels, including informing families, consulting with specialists, and conducting diagnostic testing. Diagnostic evaluations involve plasma acylcarnitine profiles and urine organic acid testing. Clinical considerations for Isovaleric Acidemia include symptoms like lethargy, poor feeding, and metabolic imbalances. Treatment recommendations include specialist-guided management, avoidance of fasting, and protein restriction. The prognosis is good with appropriate therapy. Additional resources for communicating screening results and emergency protocols are provided. Referral information for genetics clinics and genetic testing registries is also included for further assistance. The document underlines the importance of professional judgment, documentation, and staying updated on medical information for optimal patient care.

Keywords

Newborn screening

Isovaleric Acidemia

Adherence

C5 Acylcarnitine levels

Diagnostic testing

Plasma acylcarnitine profiles

Urine organic acid testing

Clinical considerations

Treatment recommendations

Prognosis