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.