Document Detail

Aromatic amino Acid decarboxylase deficiency not responding to pyridoxine and bromocriptine therapy: case report and review of response to treatment.
MedLine Citation:
PMID:  24453523     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Aromatic L-amino acid decarboxylase (AADC) deficiency (MIM #608643) is an autosomal recessive inborn error of monoamines. It is caused by a mutation in the DDC gene that leads to a deficiency in the AADC enzyme. The clinical features of this condition include a combination of dopamine, noradrenaline, and serotonin deficiencies, and a patient may present with hypotonia, oculogyric crises, sweating, hypersalivation, autonomic dysfunction, and progressive encephalopathy with severe developmental delay. We report the case of an 8-month-old boy who presented with the abovementioned symptoms and who was diagnosed with AADC deficiency based on clinical, biochemical, and molecular investigations. Treatment with bromocriptine and pyridoxine showed no improvement. These data support the findings observed among previously reported cohorts that showed poor response of this disease to current regimens. Alternative therapies are needed to ameliorate the clinical complications associated with this disorder.
Majid Alfadhel; Rana Kattan
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Publication Detail:
Type:  Journal Article     Date:  2014-01-07
Journal Detail:
Title:  Journal of central nervous system disease     Volume:  6     ISSN:  1179-5735     ISO Abbreviation:  J Cent Nerv Syst Dis     Publication Date:  2014 Jan 
Date Detail:
Created Date:  2014-01-23     Completed Date:  2014-01-23     Revised Date:  2014-01-27    
Medline Journal Info:
Nlm Unique ID:  101595026     Medline TA:  J Cent Nerv Syst Dis     Country:  New Zealand    
Other Details:
Languages:  eng     Pagination:  1-5     Citation Subset:  -    
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