holocarboxylase synthetase deficiency

A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.

Signs and symptoms

• Reduced holocarboxylase synthetase activity in cultured fibroblasts
• Elevated urinary 3-methylcrotonylglycine level
• 3-hydroxyisovaleric aciduria
• Feeding difficulties in infancy
• Hyperammonemia
• Metabolic acidosis
• Lactic acidosis
• Hypertonia
• Hyperventilation
• Lethargy

Also known as: Biotin-(propionyl-CoA-carboxylase) ligase deficiency; Multiple carboxylase deficiency - neonatal onset