Pre-symptomatically detected novel variant of CPT1A deficiency: a case report

Abstract

CPT1A enzyme deficiency is a rare metabolic disorder of mitochondrial fatty acid oxidation, with late manifestations during infancy or childhood, including hypoketotic hypoglycemia and hepatic encephalopathy. Newborn screening in several countries include pre-symptomatic detection of CPT1A deficiency, which helps in early diagnosis and better management of the disorder. We report here a case of CPT1A deficiency, detected pre-symptomatically with newborn screening, which was confirmed by exome sequencing to be a novel c. 232G>A variant in exon 3 of CPT1A gene. This is a rare variant of uncertain significance which has not been reported in literature.

Case report: Tackling the complexities of an extremely premature newborn with intrauterine growth restriction and congenital metabolic disorders through a multidisciplinary approach

“…Critical hypoketotic hypoglycemia is a common presentation with most patients having recurrent hypoglycemic events as the first manifestation especially in the event of prolonged fasting or infection where glycogen reserves are exhausted soon ( 14 , 15 ). In the present case, the patient had a lot of hypoglycemic events immediately after birth and at 3 weeks of life during which he presented a difficult digestive tolerance and serious general condition being mechanically ventilated, parenteral nutrition, and antibiotic treatment for infection.…”

“…A sufficient level of glucose should be constantly supplied to patients with CPT1A deficiency during long time of fasting. Higher glucose infusion rates are essential in CPT1A-deficient patients along with mandatory blood glucose level monitoring during stressful conditions including major operation and severe infection ( 14 , 15 ). We increased the level of IV glucose at maximum to prevent complications of hypoglycemia, especially neurological sequelae.…”