Glutaric aciduria type 1

Case contributed by Elena Filimonova
Diagnosis almost certain


Acute presentation with encephalopathy, fever, and seizures, following concurrent infection

Patient Data

Age: 11 months
Gender: Male

There is an abnormal high T2 signal in the putamina and globus pallidi, as well as the heads of caudate nuclei. Globus pallidi demonstrate restricted diffusion.  Also, signal abnormality is identified in the tegmental tracts along the floor of the fourth ventricles.

There is widening of CSF spaces anterior to the temporal poles. The bifrontal and bitemporal subarachnoid spaces are widened. Right frontal subdural fluid collection is also seen. Sylvian fissures appear under-opercularised.

Myelination is normal for the patient’s age.

Features are consistent with glutaric aciduria type 1

Case Discussion

Glutaric aciduria type 1 is a rare disorder, with autosomal recessive inheritance. It is caused by a deficiency in glutaryl–coenzyme A dehydrogenase and results in the accumulation of glutaric acids [1].  The disease usually presents with metabolic crisis (acute encephalitis-like encephalopathy) early in life.

In this case, the first episode occurs at the age of 11 months (usually between the ages of 6 and 18 months). The diagnosis was confirmed by urinary analysis (unfortunately, there are no data of DNA analysis).

The metabolic crisis is usually triggered by an infectious illness, as in this case. Treatment consists of a diet low in protein (in particular tryptophan and lysine) [2]. 

On MRI, Sylvian fissures are usually widened and appear under-opercularised, CSF spaces anterior to the temporal lobes are enlarged, and there is white matter edema. In an acute metabolic crisis, there is usually also striatum involvement (edema and diffusion restriction).

Because of the presence of chronic subdural collection, this case should be differentiated from a non-accidental head injury. But there are other features (specific for leukodystrophies), that helps to differentiate. 


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