Neurological Outcomes of Newborn Screening-Identified Isovaleric Acidemia: A Case Series Exploring Initial C5 Acylcarnitine Levels.
Isovaleric acidemia newborns with C5 up to 63.6 μmol/L had no neurological impairment.
Neurological Outcomes of Newborn Screening-Identified Isovaleric Acidemia: A Case Series Exploring Initial C5 Acylcarnitine Levels.
Isovaleric acidemia (isovaleric acidemia) is a rare autosomal recessive disorder caused by isovaleryl-CoA dehydrogenase deficiency, leading to toxic metabolite accumulation and potentially life-threatening metabolic crises.
This single-center retrospective study examined 10 Australian patients diagnosed with isovaleric acidemia via newborn screening between 2004 and 2025.
Were stratified as "mild" or "classic" based on initial C5 levels and clinical severity.
Newborn screening (newborn screening) has enabled early detection through elevated C5 acylcarnitine levels, yet the prognostic value of initial C5 concentrations remains unclear.
Dietary practices varied, with some patients maintaining protein restriction due to self-limited intake.
Our findings reveal substantial heterogeneity in biochemical profiles and clinical trajectories, with minimal correlation between initial C5 levels and neurodevelopmental outcomes.
Limitations include small sample size, retrospective design, and incomplete standardized neurocognitive testing.
Further prospective studies incorporating genotype data and formal assessments are needed to refine risk stratification and optimize long-term care strategies.