Severe Clinical Manifestation Of Mitochondrial 3 Hydroxy 3 Methylglutaryl CoA Synthase Deficiency Associated With Two Novel Mutations A Case Report

This case report describes a 9-month-old boy with a rare inherited metabolic disorder called mitochondrial HMG-CoA synthase deficiency (mHS deficiency). This condition affects the body's ability to produce ketones - important energy molecules that the body normally makes when breaking down fats during times when carbohydrates aren't available, such as during illness or fasting. Only about 20 cases of this disorder have been reported worldwide.

The infant developed severe and persistent metabolic acidosis (dangerous acid buildup in the blood) after experiencing diarrhea and eating less. Unlike most previously reported cases of this condition, which typically have good outcomes with proper treatment, this child's condition was unusually severe. Despite initial treatment with sugar supplementation and blood purification procedures, the child experienced a second episode triggered by a respiratory infection, which led to multiple organ failure and death.

Laboratory testing revealed specific patterns in the child's urine and blood that could help doctors identify this condition more quickly in the future. Genetic testing found two new mutations in the gene responsible for this disorder, expanding our understanding of how different genetic changes can cause the disease.

This tragic case highlights the importance of early recognition and aggressive treatment of rare metabolic disorders. For patients with known metabolic conditions, it emphasizes the critical need to prevent infections and maintain proper nutrition during illness. In clinical practice, this research helps doctors better understand the warning signs and laboratory patterns that could lead to earlier diagnosis and potentially life-saving interventions for patients with similar rare metabolic conditions.