[Glutaric aciduria type I. Clinical, biochemical and molecular findings in six patients in Venezuela].

INTRODUCTION: Glutaric aciduria type I is an autosomal recessive inborn error of metabolism that is due to a deficiency of the enzyme glutaryl-CoA dehydrogenase, which gives rise to an accumulation of glutaric and 3-hydroxyglutaric acids in biological fluids. Clinical features present as a sudden-onset severe neurological disorder, characterised by extrapyramidal signs (dystonia-dyskinesia), hypotonia, irritability, macrocephaly and degeneration of the basal ganglia; it may also manifest with unspecific symptoms, such as hypotonia and psychomotor retardation.

AIMS: To describe the clinical, biochemical, neuroimaging and molecular aspects in six Venezuelan patients and to highlight the importance of an early diagnosis of glutaric aciduria type I so as to be able to establish early treatment and thus prevent the neurological damage produced by this disease.

CASE REPORTS: Two patients were referred because of macrocephaly, hypotonia and psychomotor retardation, and four more following an encephalopathic crisis. In all of them, neuroimaging studies showed delays in myelination, bilateral frontotemporal hypoplasia and symmetric widening of the Sylvian fissures with poor opercularisation. Urinary organic acid analyses showed raised levels of glutaric and 3-hydroxyglutaric acids, and a molecular analysis confirmed the diagnosis.

CONCLUSIONS: Organic acid analysis should be indicated in all patients who present macrocephaly, hypotonia, psychomotor retardation or an encephalopathic crisis of unknown causation. This study allowed us to determine the behaviour of the disease in Venezuela, since no epidemiological data exist in the country.