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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Article Home Children's Health Acidemia Isovaleric

Acidemia Isovaleric

Acidemia Isovaleric is a classical type of organic acidemia. It?s a rare autosomal recessive metabolic disorder which prevents normal metabolism of the branched-chain amino acid leucine.

 

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