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Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis

Ma Luz Couce1, Olalla López-Suárez, Ma Dolores Bóveda

  • 1Unidad de Diagnóstico y Tratamiento de Enfermedades Congénitas del Metabolismo, Departamento de Pediatría, Hospital Clínico Universitario, Universidad de Santiago, Santiago de Compostela, Spain. maria.luz.couce.pico@sergas.es

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|February 12, 2013
PubMed

Insights

Early diagnosis of Glutaric aciduria type 1 (GA-1) via newborn screening improves patient outcomes. Urine C5DC is a reliable marker, and early treatment is crucial for favorable clinical evolution in GA-1 patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Glutaric aciduria type 1 (GA-1) is a rare metabolic disorder.
  • Newborn screening (NBS) offers early identification, but long-term outcomes require further evaluation.

Purpose of the Study:

  • To assess the clinical evolution of GA-1 patients diagnosed through NBS versus clinical diagnosis.
  • To identify reliable biomarkers for GA-1 detection and monitoring.

Main Methods:

  • Retrospective analysis of nine GA-1 patients over 12 years.
  • Tandem mass spectrometry for metabolite analysis (blood and urine C5DC).
  • Genetic analysis of the GCDH gene and identification of mutations.

Main Results:

  • Birth prevalence of GA-1 was 1:35,027.
  • Urine C5DC proved a sensitive marker for GA-1 detection.
  • Screened patients showed better outcomes; NBS-detected patients remained asymptomatic with early intervention.
  • Unscreened patients had poorer outcomes, including severe spastic tetraparesis.
  • Plasma levels of lysine, tryptophan, and carnitine were useful follow-up biomarkers.

Conclusions:

  • Early diagnosis through NBS and prompt treatment are critical for favorable clinical outcomes in GA-1.
  • Urine C5DC is a valuable diagnostic marker.
  • Plasma amino acids and carnitine aid in monitoring GA-1 patient progress.

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