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Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia
C Vianey-Saban1, B Mousson, C Bertrand
1Unité d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
Insights
A rare carnitine palmitoyl transferase I (CPT I) deficiency caused a fatal coma in a young child after an infection. This fatty acid oxidation disorder presents subtly, requiring specific diagnostic tests.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Pediatric Medicine
Background:
- Carnitine palmitoyl transferase I (CPT I) is crucial for long-chain fatty acid oxidation.
- Deficiency in CPT I impairs energy production, particularly during metabolic stress.
- This case highlights a rare metabolic disorder with potentially subtle initial presentations.
Observation:
- A previously healthy child developed coma and hepatomegaly following an influenza-like illness.
- Initial tests showed normal glucose and organic acids, but elevated carnitine levels.
- Fibroblast studies revealed severely reduced palmitic acid oxidation and confirmed CPT I deficiency.
Findings:
- The patient's fibroblasts exhibited significantly impaired [1-14C] palmitic acid oxidation (13% of controls).
- Carnitine palmitoyl transferase I (CPT I) activity was markedly deficient (15% of controls), while CPT II activity was normal.
- This confirms a diagnosis of carnitine palmitoyl transferase I deficiency.
Implications:
- CPT I deficiency is a rare inborn error of metabolism affecting fatty acid oxidation.
- The subtle clinical and biochemical features can lead to diagnostic challenges.
- Early diagnosis and management are critical for patients with fatty acid oxidation disorders.
Abstract:
An apparently healthy girl aged 2 years 9 months developed a coma with hepatomegaly within 24 h after an influenza-like infection. Plasma glucose and urinary organic acid profile were normal but plasma and urinary carnitine concentrations were increased. Despite symptomatic therapy, she died 11 days later. Oxidation of [1-14C] palmitic acid in the patient's fibroblasts was severely decreased (13% of controls). Further investigations revealed a deficiency of carnitine palmitoyl transferase I (CPT I) in the patient's fibroblasts (15% of controls) whereas CPT II activity was normal. Only four patients with CPT I deficiency have been reported so far. The subtle clinical and biochemical presentation of this disorder, which may account for the small number of cases diagnosed, is discussed.