Systemic primary carnitine deficiency with hypoglycemic encephalopathy

Area of Science:

• Biochemistry
• Pediatrics
• Metabolic Disorders

Background:

• Acute hypoglycemia is a common pediatric emergency.
• Hypoketotic hypoglycemia suggests hyperinsulinemia or impaired fatty acid oxidation.
• Carnitine is crucial for mitochondrial fatty acid transport and oxidation.

Purpose of the Study:

• To report a case of systemic primary carnitine deficiency presenting as hypoketotic hypoglycemia.
• To emphasize the importance of considering metabolic defects in unexplained hypoglycemia.
• To highlight seizures as a potential presentation of this condition.

Main Methods:

• Case report presentation.
• Clinical evaluation of a pediatric patient with seizures and hypoglycemia.
• Biochemical analysis to identify the underlying metabolic cause.

Main Results:

• The patient presented with seizures attributed to hypoketotic hypoglycemia.
• Systemic primary carnitine deficiency was diagnosed as the underlying cause.
• This deficiency impaired long-chain fatty acid oxidation.

Conclusions:

• Systemic primary carnitine deficiency can manifest as severe hypoketotic hypoglycemia and seizures in children.
• Early diagnosis and management are crucial for preventing severe neurological complications.
• Carnitine deficiency should be considered in the differential diagnosis of pediatric hypoketotic hypoglycemia.