Mitochondrial metabolic disease with autosomal recessive transmission (gene at the level of chromosome 12). Deficiency in enzyme that initiates the beta-oxidation of short chain fatty acids   (C 4-6). Given that medium and long chain fatty acids are metabolized normally, hypoglycemia is rare but there is an accumulation of intermediate metabolites such as butyryl-CoA, which are toxic to CNS and skeletal muscle.

Clinical manifestations are highly variable:

-        crises of metabolic acidosis with organic aciduria, notably in case of infection, prolonged fasting or with some medications:  possibility to be kept in mind in case of coma, important metabolic acidosis or rhabdomyolysis after anesthesia

-        hypotonia (lipid myopathy at biopsy)

-        seizures, scoliosis, developmental delay

-        myocardial dysfunction

Anesthetic implications:

preoperative echocardiography; glucose infusion (5 or even 10%) at the beginning of the fasting period; usual dose of oral carnitine in the morning of the procedure; monitor blood glucose levels.

The use of propofol is contraindicated because it inhibits complex II of the respiratory chain. A Ringer's lactate solution can be used because lactate is converted into pyruvate and can thus enter the Krebs cycle. Avoid succinylcholine as there is a risk of rhabdomyolysis.

References : 

Turpin B, Tobias JD. 
Perioperative management of a child with short-chain acyl CoA dehydrogenase deficiency. 
Pediatr Anesth 2005; 15: 771-7.

Updated: September 2018