Short-chain Acyl-CoA Dehydrogenase Deficiency in a Child: A Case Report

Short-chain 3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) enzyme deficiency is an autosomal recessive inborn error of metabolism affecting mitochondrial Fatty Acid Oxidation (FAO). In this condition, the body fails to produce energy from fats during times of stress. Effective energy production relies on the mitochondrial β-oxidation of fatty acids, which is especially crucial during periods of fasting, infections, and other metabolic stressors. Children with this deficiency often present with transient and nonspecific symptoms. Here, we present the case of a five-year-old male child with a recurrent history of seizures, persistent hypoglycaemia, metabolic acidosis with hypotension requiring inotropic support, and a deteriorating Glasgow Coma Scale score necessitating mechanical ventilation. Upon evaluation, he was found to have hypoinsulinemia, and his electroencephalogram suggested encephalopathy. After ruling out sepsis, hyperinsulinaemia, and meningoencephalitis, inborn errors of metabolism were suspected, with a fatty acid oxidation defect being the most likely diagnosis. The patient was ultimately diagnosed with SCHAD deficiency using Gas Chromatography-Mass Spectrometry Tandem Mass Spectrometry (GCMS-TMS). The potential for rapid deterioration associated with SCHAD deficiency underscores the need for prompt evaluation and intervention, which are essential for early diagnosis and favourable outcomes to prevent morbidity and mortality. The serious complications associated with this condition also highlight the necessity for newborn screening for inborn errors of metabolism.