Brain damage is a tragic possible complication of the condition Gluatric Aciduria 1 (GA1.) GA1 is an inherited metabolic disorder resulting from a deficiency of the enzyme glutaryl-CoA dehydrogenase and is genetically determined. Symptoms of this condition include a large head, seizures, stroke, and neurological damage. Treatment of this condition is in the form of a low protein diet. Screening for this condition is now included in the newborn Guthrie blood spot.
In an acute encephalopathic crisis situation, caused by inadequate treatment of GA1 through a carefully monitored diet, symptoms can progress to include poor appetite, abnormal movements, vomiting and irritability. In extreme circumstances, seizures and comas can occur which can lead to brain damage.
Diagnosis of GA1 is imperative so as to ensure that a carefully controlled diet is implemented so as to prevent brain damage from occurring. However, due to the spectrum of symptoms associated with GA1, there comes a risk that an incorrect diagnosis could be made. For example, GA1 shares the symptoms of vomiting and irritability with septic conditions.
In order to ensure that GA1 is diagnosed at the earliest opportunity, so as to ensure a diet plan is put in place, the condition should be considered in all children presenting with acute encephalopathy, stroke, large head with developmental delay. Stroke is uncommon in children but should always be considered in a child who stops moving a limb if there is not obvious history or signs of trauma. Stroke is always an emergency in paediatrics and early referral to a Paediatric Neurology Service is mandatory and referral to metabolic team should be considered.
As part of metabolic investigations, urine organic acids should be measured. This would give the best chance of diagnosing GA1 at an early stage and reducing the likelihood of brain damage.