Aciduria glutárica tipo I: reporte de un caso con diagnóstico tardío.

BACKGROUND: Glutaric aciduria type I (AG-I) is an inborn error of metabolism caused by variants in GCDH, this affects the function of the enzyme glutaryl-CoA dehydrogenase and produces accumulation of neurotoxic metabolites, patients with this disfunction are characterized with striatal lesions and movement disorders (dystonia, choreoathetosis). CASE REPORT: The patient is a 3-year-old Mexican male with a history of an encephalopathic crisis at 10 months old, after this episode he suffered development regression, hypotonia and movement disorder, he has also other pathological antecedents: laryngomalacia, recurrent hordeolum, chronic productive cough, diarrhea-constipation, generalized hyperhidrosis and multiple hospitalizations for acute respiratory infections. MRI reported expansion in the frontotemporal subarachnoid space and the Sylvian fissures, also bilateral atrophy, T2/FLAIR hyperintensity and restricted diffusion in the basal ganglia; organic acids analysis showed increased glutaric acid levels; GCDH sequencing reported two pathogenic variants: p.Arg402Trp and p.Thr429Met. CONCLUSIONS: This is a report of a late diagnosed AG-I case with two pathogenic variants in GCDH, previously unreported in the Mexican population. Early AG-I treatment radically changes the prognosis; however, it depends on screening methods for diagnosis that are not widely available in some populations. [ABSTRACT FROM AUTHOR]