Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma.

摘要: A 4-year-old girl was referred for reassessment of dyskinetic cerebral palsy. Initial investigations in her country birth, India, had not yielded a diagnosis. MRI brain infancy revealed bilateral putamen hyperintensity. She generalized dyskinesia predominantly bulbar and limbs. Motor speech development were most affected with preservation cognitive development. There no history acute encephalopathic crisis or status dystonicus. urine organic acids amino acylcarnitine profile (ACP) normal. dystonia genetic panel showed compound heterozygosity pathogenic variant uncertain significance the GCDH gene. The latter is hitherto undescribed indicative potential diagnosis glutaric aciduria type 1 (alternatively acidemia 1) (GA-1), an autosomal recessive disorder mitochondrial lysine/hydroxylysine tryptophan metabolism. Repeat isolated slightly increased 3-hydroxy glutarate excretion consistent GA-1 characterizing patient as "low excretor," diagnostic sub-group where more challenging but prognosis similar. Brain at age 4 volume loss symmetric T2 hyperintensity posterior putamina bilaterally. This case highlights dilemma differing clinical courses, variants, neuroradiological findings, biochemical patterns may lead to later presence newborn screening should dull clinician's suspicion possibility that present complex movement disorder. Timely treatment essential, neurological sequelae are largely irreversible.