This information supports, and does not replace, advice from your healthcare professional.
Overview
Isovaleric acidaemia is a rare inherited metabolic disorder that prevents the body from properly breaking down the amino acid leucine, leading to a buildup of isovaleric acid.
Symptoms
Vomiting and poor feeding in infants Unusual body odor, often described as sweaty feet Developmental delays Muscle weakness or hypotonia Seizures in severe cases
Causes
Mutation in the IVD gene affecting the enzyme isovaleryl-CoA dehydrogenase Inherited in an autosomal recessive pattern
Diagnosis
Newborn screening via blood tests Urine organic acid analysis Genetic testing for IVD mutations
Treatment
Dietary management to limit leucine intake Supplementation with carnitine to help remove isovaleric acid Prompt treatment during metabolic crises Regular monitoring by a metabolic specialist