DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20221008

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

Hari Prasath Ramachandran, Ramkumaar U.

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.


Keywords


CPT1A deficiency, Hypoketotic hypoglycemia, Fatty acid oxidation, Newborn screening, Novel mutation

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References


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