HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Figures Only Full Text Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Swoboda, K. J. Articles by Levy, H. L. Search for Related Content PubMed PubMed Citation Articles by Swoboda, K. J. Articles by Levy, H. L.

Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency

From the Division of Genetics (Drs. Swoboda and Levy), Children’s Hospital and Harvard Medical School, Boston, MA; Institute of Metabolic Disease (Dr. Hyland and L.A. Arnold), Baylor University Medical Center, and Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX; Clinical Neuroscience Branch (Dr. Goldstein and C.S. Holmes), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; and Department of Neurology (Dr. Kuban), Floating Hospital for Children, Boston, MA.

Address correspondence and reprint requests to Dr. Kathryn J. Swoboda, Department of Neurology, University of Utah School of Medicine, Room 3R210, 50 North Medical Drive, Salt Lake City, UT 84132.

OBJECTIVES: To elucidate the phenotype in aromatic L-amino acid decarboxylase (AADC) deficiency, a rare autosomal recessive disorder of neurotransmitter synthesis, and report preliminary treatment observations with directed therapy of the associated neurotransmitter deficiencies.

BACKGROUND: AADC is a required enzyme in dopamine, norepinephrine, epinephrine, and serotonin biosynthesis. Five patients have been previously reported. Responses to treatment interventions in these patients have been mixed.

METHODS: Clinical and biochemical evaluation and therapeutic trials were performed in two children over a 26-month period.

RESULTS: Characteristic features included axial hypotonia, hypokinesia, and athetosis, with superimposed episodes of ocular convergence spasm, oculogyric crises, dystonia, and limb rigidity. Catecholamine deficiency was manifest by ptosis, nasal congestion, paroxysmal diaphoresis, temperature instability, and blood pressure lability. Abnormal sleep, feeding difficulties, and esophageal reflux were typical. Significant therapeutic benefit was observed in one child with a combination of pergolide, trihexyphenidyl, and tranylcypromine. Preliminary trials using serotonin receptor agonists or reuptake inhibitors resulted in adverse effects.

CONCLUSIONS: The movement disorder in AADC deficiency, particularly the characteristic eye movement abnormalities, should facilitate the identification of patients with this rare but possibly underrecognized disorder. Directed therapy of the underlying dopamine and norepinephrine deficiency may be beneficial in some cases.

Key words: Aromatic L-amino acid decarboxylase deficiency—Neurotransmitter deficiency—Oculogyric crises—Dystonia.

This article has been cited by other articles:

				R. Pons, B. Ford, C. A. Chiriboga, P. T. Clayton, V. Hinton, K. Hyland, R. Sharma, and D. C. De Vivo Aromatic L-amino acid decarboxylase deficiency: Clinical features, treatment, and prognosis Neurology, April 13, 2004; 62(7): 1058 - 1065. [Abstract] [Full Text] [PDF]

				R. E. Frye, E. Donner, A. Golja, and C. M. Rooney Folinic Acid--Responsive Seizures Presenting as Breakthrough Seizures in a 3-Month-Old Boy J Child Neurol, August 1, 2003; 18(8): 562 - 569. [Abstract] [PDF]

				D. S. Goldstein, G. Eisenhofer, and I. J. Kopin Sources and Significance of Plasma Levels of Catechols and Their Metabolites in Humans J. Pharmacol. Exp. Ther., June 1, 2003; 305(3): 800 - 811. [Abstract] [Full Text] [PDF]