Treatment of the organic acidurias

This section is concerned with providing an outline of the general approaches to the therapy of the organic acidurias rather than specific examples related to 

TTierapy of the patient with an organic aciduria, who is frequently an acutely ill newborn or infant with severe ketoacidosis, that may be episodic and associated with vomiting, fits and coma, is initially directed at the management of the acute episodes, and supportive therapy will often have been initiated before the diagnosis has been made. Assisted ventilation, control of the acidosis with intravenous bicarbonate and cessation of all protein intake with maintenance by intravenous or oral dextrose are the general immediate requirements, dependent on the clinical state of the patient (Gompertz, 1975  

There are three basic strategies for the long-term treatment of inherited metabolic disease, and, depending on the disease concerned, treatment may require their introduction in utero, immediately at birth, in infancy, or even later in life  

Amplification of residual apoenzyme activity by vitamin cofactor supplementation at pharmacological doses. 

Product replacement (B) has not been of particular value in the organic acidurias to date, since frequently the product is difficult to replace effectively, or is not of particular value in normal metabolic function. Coenzyme 

---