Volume 22 Supplementary Issue 3
Carnitine Deficiency Presenting as Neonatal Seizures and Encephalopathy
Ramesh Choudhary, Neelam Singh, Sawai Singh Lora, Sunil Gothwal
Abstract
Primary carnitine deficiency (PCD) is an autosomal recessive disorder. It is due to the deficiency of carnitine transporter in the plasma membrane (SLC22A5 gene). PCD results in urinary carnitine wasting, leading to systemic carnitine depletion. It usually presents as cardiomyopathy and myopathy during infancy, but in neonates, it presents as encephalopathy. Management of PCD involves supplementation of levocarnitine. Carnitine deficiency has a good prognosis with early diagnosis and carnitine supplementation. Here, we report 2 cases of carnitine deficiency that presented as neonatal encephalopathy.
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