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Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes

Kathryn J Swoboda1, J Philip Saul, Catherine E McKenna

  • 1Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA. swoboda@genetics.utah.edu

Annals of Neurology
|August 2, 2003
PubMed

Insights

L-amino acid decarboxylase deficiency presents with early-onset movement disorders and autonomic dysfunction. Clinical outcomes remain poor, highlighting the need for improved L-amino acid decarboxylase deficiency treatments.

Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • L-amino acid decarboxylase deficiency is a rare neurometabolic disorder.
  • Early diagnosis and understanding of its biochemical phenotype are crucial.

Purpose of the Study:

  • To update diagnostic considerations and biochemical phenotype of L-amino acid decarboxylase deficiency.
  • To review clinical features and outcomes in 11 affected patients.

Main Methods:

  • Case review of 11 patients with L-amino acid decarboxylase deficiency, including 7 new cases.
  • Analysis of clinical features, movement disorder phenomenology, and autonomic dysfunction.
  • Assessment of functional clinical outcomes and treatment interventions.

Main Results:

  • All patients exhibited onset of movement disorder by 6 months of age.
  • Characteristic movement disorder includes oculogyric crises, dystonia, athetosis, and impaired voluntary movement.
  • Significant autonomic dysfunction, particularly impaired sympathetic regulation, was observed.

Conclusions:

  • Functional clinical outcomes for L-amino acid decarboxylase deficiency remain poor, with significant motor and communication impairments.
  • Outcome variability exists among patients despite various treatment attempts.
  • Further research is needed to identify optimal treatment strategies for L-amino acid decarboxylase deficiency.

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