Carnitine Palmitoyl Transferase Type 1 Deficiency: A Missed Diagnosis
Year: 2025
Type: article
Study design: Case Report
Abstract: A 2.5-year-old male child was admitted with altered sensorium due to hepatic encephalopathy. His viral markers were negative. There was a family history of death of a sibling at 2 years of age with similar illness. He had hypertriglyceridemia. Tandem mass spectrometry was suggestive of carnitine palmitoyltransferase 1A (CPT1A) deficiency. Genetic evaluation revealed a homozygous pathogenic variant in the CPT1A gene. This child had a stormy course and expired within 48 h of admission. The diagnosis was made a few days later when the reports were available.
Source: Genetic Clinics
Author: Sunil Taneja
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4408621222