6foad 2

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) deficiency

This is the most common fatty acid oxidation disorder. It is also one of the least severe, with no evidence of chronic muscle or cardiac involvement.

Affected individuals appear to be entirely normal until an episode of illness is provoked by an excessive period of fasting.

Hypoglycemia develops because of excessive glucose utilization due to the inability to switch to fat as a source of energey.

Severe symptoms of lethargy and neusea develop in association with the marked increase in plasma fatty acids.

Carnitine/Acylcarnitine Translocase (TRANS) Deficiency

Symptoms include:

Fasting hypoketotic hypoglycemia

Coma

Cardiopulmonary arrest

Ventricular arrhythmias

Very-long Chain acyl-CoA dehydrogenase (VLCAD) Deficiency

Many of the patients with VLCAD deficiency have severe clinical manifestations, including;

Chronic cardiomyopathy

Weakness

Fasting coma

Conclusion

Individually rare. However, accounts for 20% of diagnosis in sick full term infants

Non-specific presenting symptoms

Requires high index of suspicion

Many are treatable with early recognition

Common in certain populations

knowledge of biochemical pathways is necessary to treat patients during the initial evaluation

It is important to know which IEMs are tested on the newborn screen in your country/state

Emergent management: Stop oral feeds, correct acidosis, treat severe hyperammonemia. Send initial screening labs: ABG, lactate, glucose, electrolytes, liver function (attn: bilirubin), CBC with diff. Consult Genetics.