Related Experiment Videos
Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin
Insights
This study details a severe case of glutaric aciduria type II (GA II) in an infant. Early intervention with diet, riboflavin, carnitine, and insulin improved outcomes, enabling survival beyond the first year.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Glutaric aciduria type II (GA II) is a rare metabolic disorder.
- Early diagnosis and intervention are crucial for managing GA II.
Observation:
- A 6-week-old infant presented with hypoglycaemic coma and hypotonia.
- Urine organic acid analysis confirmed GA II.
- The patient experienced recurrent infections and muscle weakness requiring ventilation.
Findings:
- Treatment with a high-energy, low-fat, low-protein diet, riboflavin, and carnitine showed partial improvement.
- Combined insulin therapy and glucose-rich diet significantly enhanced muscle strength and weight gain.
- This patient is the first reported severe GA II case to survive past one year of age.
Implications:
- Aggressive, multi-faceted treatment strategies can improve outcomes in severe GA II.
- Metabolic studies and long-term monitoring are essential for managing this disorder.
- This case highlights the potential for improved survival and quality of life in GA II patients with tailored interventions.
Abstract:
A boy, now 22 months old, is described who presented at the age of 6 weeks with hypoglycaemic coma. The excretion pattern of organic acids in the urine was consistent with glutaric aciduria type II (GA II). A high energy diet low in fat and protein was given. Treatment with riboflavine resulted in an improvement of the metabolite profile, and the patient gained weight. However, a tendency to hypoglycaemia and severe hypotonia persisted. Due to muscle weakness, aggravated by infections, artificial ventilation was necessary during three periods. Serum carnitine level was low. Treatment with carnitine, started during the third period of artificial ventilation, led to some improvement of muscle strength, but he still could not breathe without support. Treatment with insulin, combined with further enrichment of the diet with glucose, resulted in an increase in muscular strength and in weight gain. Thirteen families with GA II have been described upto now. This is the first patient with a severe form of the disorder wo has survived the 1st year of life. Treatment and metabolic studies are presented.