Importancia del diagnóstico precoz y el tratamiento temprano en el pronóstico de la aciduria glutárica tipo I

  1. M.L. Couce Pico
  2. D.E. Castiñeiras Ramos
  3. M. López Sousa
  4. M.J. Fernández Seara
  5. J. Eirís Puñal
  6. J.A. Cocho de Juan
Revista:
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )

ISSN: 1695-4033 1696-4608

Ano de publicación: 2008

Volume: 69

Número: 3

Páxinas: 239-243

Tipo: Artigo

DOI: 10.1157/13125818 DIALNET GOOGLE SCHOLAR lock_openAcceso aberto editor

Outras publicacións en: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )

Resumo

Objective To investigate the value of expanded newborn screening by adding the measurement of urine glutarylcarnitine to conventional chromatography-mass spectrometry (GC-MS) in the diagnosis of GA-1. Material and methods We report clinical and biochemical data in 5 GA-I patients diagnosed in our Hospital. Details regarding biochemical diagnosis are emphasised and the absence or presence of symptoms was correlated with neuroimaging findings, age at diagnosis and treatment. Results Two patients showed high glutarylcarnitine levels in plasma and were identified by routine newborn GC-MS screening. Following early appropriate treatment they are asymptomatic 6 years later. Two patients with delayed diagnosis displayed neurological sequels in spite of treatment. The remaining patient, who presented with en-cephalopathic episode at age 8 months showed normal glutarylcarnitine levels in routine plasma GC-MS but high urine glutarylcarnitine levels in a retrospectively screened urine sample from the newborn period. Conclusions Early treatment seems to positively influence the clinical evolution of GA-I patients. Thus, improving the identification of GA-I represents an important diagnostic challenge. The urinary excretion of glutarylcarnitine is a specific biochemical marker of GA-I and allows the identification of patients without glutaric aciduria and with normal plasma acylcarnitine profiles.