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

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...

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Detalles Bibliográficos
Autores principales: Alfadhel, Majid, Kattan, Rana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Libertas Academica 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891626/
https://www.ncbi.nlm.nih.gov/pubmed/24453523
http://dx.doi.org/10.4137/JCNSD.S12938

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891626/
https://www.ncbi.nlm.nih.gov/pubmed/24453523
http://dx.doi.org/10.4137/JCNSD.S12938

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