Causes

• Acidemia Isovaleric is an autosomal recessive disorder due to mutation in IVD gene.
• IVD gene plays an essential role in breaking down proteins (leucine) from the diet through specific enzymes.
• Mutation in the IVD gene reduces or eliminates the activity of the enzyme and body is unable to break down leucine properly.
• As a result, an organic acid called isovaleric acid and related compounds build up and cause damage to the brain and nervous system, causing serious health problems.

Clinical features

• Sweat feety odor
• Poor feeding in infants
• Vomiting
• Lack of energy (lethargy)
• Failure to gain weight at the expected rate (failure to thrive)
• Delayed development
• Seizures
• Episodes are triggered by prolonged periods of fasting, infections, or consuming increased amount of protein-rich foods.
• Coma/ death

Test and diagnosis

• Screening for Isovaleric acidemia – Mass spectrometry
• Elevated levels of isovalerylglycine in urine
• Elevated levels of isovalerylcarnitine in plasma

Treatment

• Restriction of dietary protein particularly leucine
• During acute episode glycine is given, which conjugates with isovalerate forming isovalerylglycine, or carnitine