Difficult Management of Glucose Homeostasis in a 21-Month-Old Child With Type 1 Diabetes and Unknown Glutaric Aciduria Type I: A Case Report

A 21-month-old boy with previously diagnosed type 1 diabetes was admitted to our unit, presenting with glycometabolic failure (pH 7.30; base excess −11.9 mmol/L; blood glucose 17.3 mmol/L; HbA1c 10.4% [90 mmol/mol]; glycosuria; and ketonuria). During physical examination he was dehydrated and pale and presented with axial hypotonia with hyposthenia, poor head control, hypotonic legs, and hyporeflexia. His neurological clinical status became compromised after the diagnosis of type 1 diabetes when he was 15 months old. During hospitalization, the management of blood glucose homeostasis was difficult because of a high level of glycemic variability. Hypo- and hyperglycemic episodes were associated with acute encephalopathic crises characterized by hypotonia, dyskinetic movements, difficulty swallowing, and episodes of opisthotonus with no loss of consciousness. For better control of blood glucose, subcutaneous insulin treatment was stopped (he was being treated with a basal-bolus scheme using rapid and long-acting insulin analogs) and intravenous insulin was started; a sensor was positioned for continuous glucose monitoring. This therapy improved his clinical status and reduced the glucose variability and the number of encephalopathic crises. On the basis of the clinical characteristics, mitochondrial encephalopathy was suspected. The analysis of urinary organic acids revealed high levels of glutaric acid and 3-hydroxyglutaric acid. T2-weighted and fluid-attenuated inversion recovery magnetic resonance images of the brain showed white matter signal abnormalities in different regions (primarily in the posterior periventricular and peritrigonal regions) and a bilateral striatal system (caudate nuclei and putamina), as typically happens in glutaric aciduria type I (GA-I).This is the first case report describing the association of GA-I and type 1 diabetes. Early diagnosis and a specific low-lysine diet in combination with extremely careful insulin management through the use of an insulin pump and continuous glucose monitoring could contribute to making GA-I a treatable condition