Short Chain Acyl Co-A Dehydrogenase Deficiency A Rare Inborn Error Of Metabolism
Short Chain Acyl Co-A Dehydrogenase Deficiency
DOI:
https://doi.org/10.70284/njirm.v5i1.683Keywords:
SCADD, fatty acid oxidation, inborn errors of metabolismAbstract
recessive inborn error of mitochondrial fatty acid β oxidation. The energy producing fatty acid oxidation pathway is affected at the first step due to deficiency of short chain acyl coA dehydrogenase and is manifested as lethargy, metabolic acidosis and hypoglycaemia. We report a case ofeight day old male neonate born to 32 year old female by caesarean delivery diagnosed with SCADD. Investigations: Blood investigations of haematology, serum electrolytes, and enzymes levels were done. Metabolic screening for TSH, galactosaemia, blood ammonia was also conducted. Results: Serum sample revealed elevated acyl carnitine levels and urine analysis for organic acid showed slightly elevated Methyl malonic acid. The neonate was mechanically ventilated and metabolic acidosis was corrected with 8.4 % sodium bicarbonate andintravenous dextrose. Carnitor syrup 5ml/500mg was started once daily and the neonate improved in general activity along with weight gain. Conclusion: Neonatal screening by biochemical method facilitates earlier diagnosis and, along with effective management prevents morbidity and prolongs survival.
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