Glutaric Aciduria Type I (GA-I) is a rare inherited metabolic disorder of amino acid catabolism. It needs to be distinguished from other conditions that may show similar clinical findings.

Phenotypic findings:

(1) macrocephaly

(2) striatal and basal ganglia injury with dystonia or chorea

(3) encephalopathy

(4) subdural and subretinal hemorrhages


Differential diagnosis of macrocephaly:

(1) benign familial macrocephaly

(2) communicating hydrocephalus

(3) other metabolic diseases associated with macrocephaly such as Canavan disease aspartoacylase deficiency)


Differential diagnosis of striatal and basal ganglia injury:

(1) metabolic encephalopathy (Leigh syndrome)

(2) infection with Mycoplasma pneumoniae

(3) cerebral palsy


Differential diagnosis of encephalopathy:

(1) infectious encephalopathy

(2) toxic encephalopathy

(3) MELAS syndrome

(4) other organic acidurias

(5) urea cycle defect


Differential diagnosis of subdural and subretinal hemorrhages:

(1) child abuse

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