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Aromatic L-amino acid decarboxylase deficiency

Clinical features, treatment, and prognosis

From the Departments of Neurology and Pediatrics (Drs. Pons, Ford, Chiriboga, Hinton, and De Vivo), College of Physicians and Surgeons of Columbia University, New York, NY; Biochemistry Endocrinology and Metabolism Unit (Dr. Clayton), Institute of Child Health at Great Ormond Street Hospital, University College London, UK; Institute of Metabolic Disease (Drs. Hyland and Sharma), Baylor University Medical Center, Dallas, TX; and Universitat Autonoma de Barcelona (Dr. Pons), Spain.

Address correspondence and reprint requests to Dr. Darryl C. De Vivo, Neurological Institute, 710 West 168^th Street, New York, NY 10032; e-mail: dcd1{at}columbia.edu

Background: Deficiency of aromatic L-amino acid decarboxylase (AADC) is associated with severe developmental delay, oculogyric crises (OGC), and autonomic dysfunction. Treatment with dopamine agonists and MAO inhibitors is beneficial, yet long-term prognosis is unclear.

Objective: To delineate the clinical and molecular spectrum of AADC deficiency, its management, and long-term follow-up.

Results: The authors present six patients with AADC deficiency and review seven cases from the literature. All patients showed reduced catecholamine metabolites and elevation of 3-O-methyldopa in CSF. Residual plasma AADC activity ranged from undetectable to 8% of normal. Mutational spectrum was heterogeneous. All patients presented with hypotonia, hypokinesia, OGC, and signs of autonomic dysfunction since early life. Diurnal fluctuation or improvement of symptoms after sleep were noted in half of the patients. Treatment response was variable. Two groups of patients were detected: Group I (five males) responded to treatment and made developmental progress. Group II (one male, five females) responded poorly to treatment, and often developed drug-induced dyskinesias.

Conclusions: The molecular and clinical spectrum of AADC deficiency is heterogeneous. Two groups, one with predominant male sex and favorable response to treatment, and the other with predominant female sex and poor response to treatment, can be discerned.

Received June 17, 2003. Accepted in final form November 24, 2003.

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