Succinyl-CoA acetoacetate transferase deficiency

Overview

A very rare metabolic disorder involving an enzyme (Succinyl-CoA acetoacetate transferase) deficiency which prevents ketones being metabolized. Physical stress on the body (infection, exhaustion) can trigger an episode of ketosis, vomiting and rapid breathing.

Symptoms

* Episodic ketosis * Episodic ketoacidosis * Metabolic acidosis * High ketone level in urine * Vomiting episodes * Episodic tachypnea * Episodic ketosis * Episodic ketoacidosis * Metabolic acidosis * High ketone level in urine * Vomiting episodes * Episodic tachypnea

Diagnosis

signs and symptoms of Succinyl-CoA acetoacetate transferase deficiency may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Succinyl-CoA acetoacetate transferase deficiency symptoms.