Isovaleric Acidemia. Acute neonatal form.
Incidence
Aprox. 1- 5% of all neonatal organic acidemias. It is a AR disease. It is not a rare disease. More than 60 cases reported up to 1989 (1/2 neonatal, 1/2 chronic intermittent form).
Clinical Characteristics
Striking odor of urine, perspiration and breath resembling stale perspiration. It is a neonatal devastating metabolic acidosis (3-7 days), with hyperammonemia, "sweaty feet" smell, particularly during crisis; pancytopenia, low calcium and ketoacidosis.
Precipitants
Infections or excessive protein intake. Vomiting or fasting after the initial attack. The initial attack occur during the transition to neonatal life.
Provocation Tests
Isovalerylcarnitine and 3-hydroxy-isovalerylcarnitine are always present in blood during and between attacks, detected by tandem MS, which obviate the need for provocation tests.
Diagnostic Procedures
EB-F, OB-W. Isovalerylcarnitine and 3-hydroxy-isovalerylcarnitine are always present in blood during and between attacks, detected by tandem MS