[Infant coma in the emergency department: 2 cases of MCAD deficiency]

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Medium-chain Acyl-CoA dehydrogenase deficiency (MCAD) is a prevalent inherited metabolic disorder affecting fatty acid oxidation.
• MCAD deficiency can present with severe, life-threatening symptoms that mimic other acute conditions.
• The disorder necessitates early recognition and management to prevent mortality and morbidity.

Observation:

• Two pediatric patients presented with typical and severe clinical manifestations of MCAD deficiency.
• The non-specific symptoms of MCAD deficiency, such as neurological signs, can be mistaken for meningitis or intussusception.
• Prompt identification of MCAD deficiency is critical for timely intervention.

Findings:

• Early diagnosis of MCAD deficiency was achieved in both reported cases.
• Initiation of simple, targeted treatment prevented further decompensation in the affected patients.
• The study highlights the effectiveness of early intervention in managing MCAD deficiency.

Implications:

• MCAD deficiency meets the criteria for inclusion in newborn screening programs.
• Timely diagnosis and presymptomatic treatment of intercurrent illnesses significantly improve outcomes for MCAD patients.
• Widespread newborn screening for MCAD deficiency can lead to improved short- and long-term prognoses.