Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report

This case report is a retrospective metabolic analysis of a boy with severe multiple acyl-CoA dehydrogenase deficiency treated with sodium beta-hydroxybutyrate from 8 days after birth. After 8 years of standardized therapy with 16 g sodium beta-hydroxybutyrate, substitution with calcium beta-hydroxybutyrate was attempted. Beta-hydroxybutyrate salts caused adverse effects including gastrointestinal discomfort and alkalosis, and measured blood beta-hydroxybutyrate was predominantly 0.1 mmol/L or below or undetectable.