Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment

Journal of Central Nervous System Disease

Case Report

Rana Kattan¹  Majid Alfadhel² 

[1] Division of General Pediatrics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.;Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.;

关键词: aromatic L-amino acid decarboxylase deficiency;    AADC;    amino acid decarboxylase;    neurotransmitter;    dopamine;    noradrenaline;    serotonin;    oculogyric crises;   

DOI  :  10.4137/JCNSD.S12938

 received in 2013-08-04, accepted in 2013-12-11,  发布年份 2014

来源: Sage Journals

【 摘 要 】

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.

【 授权许可】

CC BY-NC   
© 2014 SAGE Publications.

【 图 表 】

Figure 4