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Glutaric aciduria yype 1: First reported cases in three Saudi patients

R Coates1, M Rashed, Z Rahbeeni

  • 1Departments of Radiology, Biological and Medical Research and Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Annals of Saudi Medicine
|July 1, 1994
PubMed

Insights

Glutaric aciduria Type 1 (GAT1) causes severe encephalopathy in children. Early diagnosis through neonatal screening is crucial for timely intervention and improved outcomes in affected infants.

Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • Glutaric aciduria Type 1 (GAT1) is a rare metabolic disorder.
  • It presents with progressive neurological symptoms, often following triggers like infection or trauma.
  • Typical presentation includes dystonia, choreathetosis, spasticity, and intellectual disability.

Purpose of the Study:

  • To present clinical and biochemical findings in three GAT1 patients.
  • To highlight the importance of recognizing GAT1 in children with unexplained neurological deficits.
  • To emphasize the need for early diagnosis and neonatal screening.

Main Methods:

  • Clinical case presentation of three patients with GAT1.
  • Biochemical analysis using gas chromatography/mass spectrometry (GC/MS) for urine organic acids.
  • Neuroradiologic brain imaging (MRI/CT) to assess white matter disease and frontotemporal hypoplasia.

Main Results:

  • Patients exhibited normal early development followed by severe encephalopathy.
  • Neurological manifestations included dystonia, choreathetosis, spastic quadriplegia, and mental retardation.
  • Brain imaging revealed white matter disease and frontotemporal lobe hypoplasia.
  • GC/MS confirmed characteristic urine findings for GAT1.
  • Two patients showed good clinical response to treatment.

Conclusions:

  • GAT1 is an organic acidemia that primarily causes progressive encephalopathy, not intermittent acidosis.
  • Recognition of GAT1 is vital for children in chronic care facilities with neurological impairments.
  • Early diagnosis, particularly in siblings of affected individuals, can lead to favorable outcomes.
  • Neonatal screening for GAT1 and other treatable metabolic diseases is recommended in Saudi Arabia.

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