RESUMEN
Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme. Improper degeneration of amino acids: tryptophan, lysine, and hydroxylysine, results in increased levels of glutaric acid, which typically becomes clinically manifest as an acute dystonic crisis in young children. Accumulation of glutaric acid causes neurotoxicity in the basal ganglia and fronto-temporal cortex which can lead to progressive dystonia, hypotonia, permanently impaired speech and seizures. Because dietary and drug therapy may alter the natural history of the disease, early diagnosis of such patients is critical. We report the magnetic resonance (MR) imaging findings in a 16 year-old girl with this disorder who presented with a chronic dystonic syndrome and previously diagnosed of brain paralysis. MR imaging demonstrated bilateral involvement of the putamina and periventricular white matter, and bilateral temporal atrophy and widened Silvian fissures.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Disartria/diagnóstico por imagen , Trastornos Distónicos/diagnóstico por imagen , Glutaril-CoA Deshidrogenasa/deficiencia , Enfermedades Mitocondriales/diagnóstico por imagen , Adolescente , Errores Innatos del Metabolismo de los Aminoácidos/dietoterapia , Errores Innatos del Metabolismo de los Aminoácidos/genética , Errores Innatos del Metabolismo de los Aminoácidos/orina , Disartria/dietoterapia , Disartria/genética , Disartria/orina , Trastornos Distónicos/dietoterapia , Trastornos Distónicos/genética , Trastornos Distónicos/orina , Femenino , Glutaratos/orina , Humanos , Discapacidades para el Aprendizaje/diagnóstico por imagen , Discapacidades para el Aprendizaje/dietoterapia , Discapacidades para el Aprendizaje/genética , Discapacidades para el Aprendizaje/orina , Imagen por Resonancia Magnética , Enfermedades Mitocondriales/dietoterapia , Enfermedades Mitocondriales/genética , Enfermedades Mitocondriales/orina , Putamen/diagnóstico por imagen , Radiografía , Lóbulo Temporal/diagnóstico por imagenRESUMEN
Therapy of chronic hepatic encephalopathy is often frustrating, limited as it is by the ability to adequately nourish such patients. Protein is needed for repair, but such patients are intolerant of protein. Previous work from this and other laboratories has suggested that the distorted plasma amino acid pattern may be causally related to hepatic encephalopathy. A single, well-studied, long-term patient received therapy with a branched-chain amino-acid-enriched elemental diet that not only enabled adequate nutrition with protein but resulted in improvement in hepatic function as well as reversal of some aspects of hepatic encephalopathy that heretofore have been deemed irreversible. The results confirm that branched-chain-enriched amino acid diets previously successful in the intravenous mode may be successfully used in chronic long-term support of patients with protein intolerance, with improvement in hepatic function secondary to improvement in nutrition.
