3-Hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (605911*)

3-Hydroxy-3-methylglutaryl-CoA synthase

Biochemical profile: See below

Clinical features: Episodic nonketotic hypoglycemia, encephalopathy, hepatomegaly

Treatment: Avoidance of fasting

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (246450*)

3-Hydroxy-3-methylglutaryl-CoA lyase

Biochemical profile: Hypoglycemia, metabolic acidosis without ketonuria

Clinical features: Irritability, lethargy, vomiting

Treatment: Avoidance of fasting, leucine restriction

Succinyl-CoA:3-oxoacid-CoA transferase deficiency (245050*)

Succinyl-CoA 3-oxoacid-CoA transferase

Biochemical profile: Ketonuria

Clinical features: Severe episodic ketoacidosis, vomiting, hyperventilation

Treatment: Glucose during acute episodes plus judicious use of bicarbonate, high-carbohydrate diet with some restriction of protein and fat

Mitochondrial acetoacetyl-CoA thiolase deficiency (203750*)

Mitochondrial acetoacetyl-CoA thiolase

Biochemical profile: Severe metabolic acidosis, hypoglycemia, ketonuria

Clinical features: Lethargy, vomiting

Treatment: Avoidance of fasting

Cytoplasmic acetoacetyl-CoA thiolase deficiency (614055*)

Cytoplasmic acetoacetyl-CoA thiolase

Biochemical profile: Ketonuria

Clinical features: Intellectual disability, hypotonia

Treatment: Not established