title: Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity.
abstract: Carnitine palmitoyltransferase II (CPTII) deficiency is a rare disorder of mitochondrial fatty acid oxidation with autosomal recessive mode of inheritance. Three classic forms of CPT II deficiency have been described namely the lethal neonatal form, severe infantile hepatocardiomuscular form and the myopathic form. We present a three-day-old female child, admitted to us for lethargy, icterus, low sugars and convulsions. Persistent non ketotic hypoglycaemia, hyperammonemia, raised liver enzymes with hepatomegaly and cardiomyopathy led to the suspicion of fatty acid oxidation defect. Tandem mass spectrometry helped to clinch the diagnosis of CPT II Deficiency in the present case.
authors.affiliation: Professor, Incharge Neonatology, Division of Neonatology, Department of Pediatrics, TN Medical College and BYL Nair Hospital , Mumbai, India .
authors.forename: Sushma
authors.initials: S
authors.lastname: Malik
authors.affiliation: Senior Resident, Neonatology, Division of Neonatology, Department of Pediatrics, TN Medical College and BYL Nair Hospital , Mumbai, India .
authors.forename: Ashutosh Abhimanyu
authors.initials: AA
authors.lastname: Paldiwal
authors.affiliation: Associate Professor, Neonatology, Division of Neonatology, Department of Pediatrics, TN Medical College and BYL Nair Hospital , Mumbai, India .
authors.forename: Charusheela Sujit
authors.initials: CS
authors.lastname: Korday
authors.affiliation: Assistant Professor, Neonatology, Division of Neonatology, Department of Pediatrics, TN Medical College and BYL Nair Hospital , Mumbai, India .
authors.forename: Shruti Sudhir
authors.initials: SS
authors.lastname: Jadhav
keywords: CPT II gene; Fatty acid oxidation; Non ketotic hypoglycaemia; Tandem mass spectrometry