When the Usual Symptoms Become an Unusual Diagnosis: A Case Report of Trifunctional Protein Complex

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Abstract

Disorders of mitochondrial fatty acid β-oxidation should be considered in any infant who presents with unexplained hypoglycemia and/or myopathy. Although disorders of trifunctional protein (TFP) complex including long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial TFP deficiencies are extremely rare, the combined incidence of mitochondrial fatty acid disorders is quite frequent. With the expansion of newborn screening, what were once considered uncommon disorders are being identified with increasing frequency in asymptomatic infants. The following case scenario presents an infant who developed symptoms prior to the completion of newborn screening. This fairly routine course for a late-preterm infant reveals an extremely rare inborn error of metabolism, LCHAD deficiency. An overview of TFP complex, the differential diagnoses as the case unfolds, diagnostic test results, acute care management, and short-term patient follow-up is presented.

With experience, health care providers often become accustomed to and expect to see common things regularly. This case presents a scenario which, as it unfolds, appears to be quite common. It turns out, however, to be very uncommon.

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