Dieta vegetariana en aciduria glutárica tipo I

Carrascosa Romero, M.aC; Abad Ortiz, L.; Cuartero del Pozo, I.; Ruiz Cano, R.; Tébar Gil, R.

doi:10.1016/S1695-4033(03)78163-6

Article information

La aciduria glutárica tipo I es una enfermedad neurometabólica, de herencia autosómico recesiva (1 caso/ 30.000), caracterizada por discinesia y distonía progresiva en niños, patológicamente por degeneración estriatal, en particular de los núcleos caudado y putamen, y bioquímicamente por deficiencia en tejidos de glutarilCoA deshidrogenasa, con cifras usualmente elevadas de ácidos glutárico y betahidroxiglutárico en orina. Actualmente no se considera una enfermedad tratable, puesto que al diagnóstico del paciente suele haber lesiones irreversibles en sistema nervioso central, beneficiándose del tratamiento los niños presintomáticos y, en general, los hermanos de otros pacientes ya diagnosticados.

Se presenta un niño de 23 meses con macrocefalia y mínimas manifestaciones neurológicas al diagnóstico, atribuidas a que el niño seguía una dieta semivegetariana. El establecimiento dietético y suplementos vitamínicos ha detenido e incluso mejorado la progresión sintomática de la enfermedad. Se concluye que a todo niño con macrocefalia progresiva de etiología no filiada se le debe realizar estudio de aminoácidos y ácidos orgánicos en orina para descartar aciduria glutárica tipo I.

Palabras clave:

Aciduria glutírica tipo I

Deficiencia glutaril-CoA deshidrogenasa

Macrocefalia

Síndrome distónico-discinético

Necrosis estriatal

necrosis estriatal

Imágenes RM

Glutaric aciduria type I is an autosomal recessive metabolic disease (1 case/30,000) characterized by a progressive dystonic-diakinetic syndrome in children. Pathologic examination reveals striatal degeneration of the caudate and putamen nucleus and biochemical analysis shows glutaryl CoA dehydrogenase deficiency. Values of glutaric and β-hydroxyglutaric acids in urine are usually increased. Currently, the disease is considered untreatable since there are usually irreversible lesions in the central nervous system at diagnosis. However, treatment can be provided to presymptomatic children and usually to the siblings of patients with this diagnosis.

We present the case of a 23-month-old boy, with macrocephaly and minimal neurologic manifestations at diagnosis, which were attributed to his semivegetarian diet. A dietary regimen and vitamin supplementation halted and even improved symptomatic progression of the disease. We conclude that amino and organic acids in urine should be investigated in all children with progressive macrocephaly of unknown etiology to rule out glutaric aciduria type I.

Keywords:

Glutaric aciduria type I

Glutaryl CoA dehydrogenase deficiency

Macrocephaly

Dystonic-dyskinetic syndrome

Vegetarian diet

Striatal necrosis

Magnetic resonance images

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