AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (AADC) –3 UNUSUAL CASE REPORTS

Abstract

Objectives: To describe the clinical and biochemical findings in 3 unrelated patients of Mediterranean origin suffering from aromatic L-amino acid decarboxylase (AADC) deficiency. No detectable mutation in the 5'-UTR and CSD of the AADC gene was found in one male patient. Methods: We describe 3 unrelated children (2F, 1M) who presented with severe developmental delay, hypotonia, hypokinesia, oculogyric crises, autonomic dysfunction and diurnal fluctuation. In 2 patients recurrent episodes of profuse sweating were the prominent autonomic symptoms. Results: All patients had marked reduction of HVA and 5HIAA level in CSF. The AADC activity was severely decreased in all patients, but no mutation was identified in the AADC gene CDS in the male patient. Molecular genetic analysis results of the 2 female patients are pending. None responded to treatment regimens including MAO inhibitors, dopamine agonists, melatonin and Vitamin B6. Conclusion: The clinical and biochemical findings of these 3 patients are similar to previously described data, but the poor response to treatment without gender preferences is unique. Moreover, the lack of detectable mutation in the AADC gene in the one investigated patient suggests a heterogeneous molecular background in AADC deficiency. Further genetic investigation in the 3 patients and their extended families is underway.