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Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity
Sushma Malik1, Ashutosh Abhimanyu Paldiwal2, Charusheela Sujit Korday3
1Professor, Incharge Neonatology, Division of Neonatology, Department of Pediatrics, TN Medical College and BYL Nair Hospital , Mumbai, India .
Journal of Clinical and Diagnostic Research : JCDR
|November 12, 2015
Summary
Carnitine palmitoyltransferase II (CPT II) deficiency, a rare fatty acid oxidation disorder, was diagnosed in a neonate presenting with hypoglycemia and seizures. Tandem mass spectrometry confirmed the diagnosis, highlighting its utility in identifying this metabolic condition.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Carnitine palmitoyltransferase II (CPT II) deficiency is a rare autosomal recessive metabolic disorder affecting mitochondrial fatty acid oxidation.
- It presents in three classic forms: lethal neonatal, severe infantile hepatocardiomuscular, and myopathic.
Observation:
- A three-day-old female infant presented with lethargy, jaundice, hypoglycemia, and seizures.
- Clinical signs included persistent non-ketotic hypoglycemia, hyperammonemia, elevated liver enzymes, hepatomegaly, and cardiomyopathy.
Findings:
- The clinical presentation strongly suggested a fatty acid oxidation defect.
- Tandem mass spectrometry was crucial in confirming the diagnosis of Carnitine palmitoyltransferase II deficiency.
Implications:
- This case underscores the importance of considering fatty acid oxidation defects in neonates with unexplained metabolic derangements.
- Early diagnosis through advanced techniques like tandem mass spectrometry is vital for timely management and improved outcomes in CPT II deficiency.
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