Holocarboxylase synthetase deficiency (Multiple carboxylase deficiency)
Incidence
Some 12 cases reported. AR disease.
Clinical Characteristics
Is a neonatal form.Has metab.acidosis, ketosis and erythematous rash. May have a cat urine odor. Hyperventilation occur during acidotic crisis.
Precipitants
no
Provocation Tests
Biotin loading (3.5 mg/kg/d or 10 mg/d in a single dose) suppresses the excretion of related organic acids within days in biotin-responsive types (holocarboxylase synthetase mutants and biotinidase deficiency). Isoleucine loading (100 mg/kg) increases the excretion of related organic acids. Remember that Multiple Carboxylase Deficiency includes Holocarboxylase synthetase and Biotinidase Deficiencies.
Diagnostic Procedures
EB-F, EB-W, CB-F.