scholarly journals Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

Brain ◽  
2019 ◽  
Vol 142 (2) ◽  
pp. 322-333 ◽  
Author(s):  
Karin Kojima ◽  
Takeshi Nakajima ◽  
Naoyuki Taga ◽  
Akihiko Miyauchi ◽  
Mitsuhiro Kato ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Amino Acid ◽  
Acid Decarboxylase ◽  
Mental Function ◽  
Amino Acid Decarboxylase ◽  
Decarboxylase Deficiency

Gene therapy improves brain white matter in aromatic l‐amino acid decarboxylase deficiency

2019 ◽  
Vol 85 (5) ◽  
pp. 644-652 ◽  
Author(s):  
Chih‐Hsien Tseng ◽  
Yin‐Hsiu Chien ◽  
Ni‐Chung Lee ◽  
Yung‐Chin Hsu ◽  
Shinn‐Forng Peng ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Amino Acid ◽  
White Matter ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
Brain White Matter ◽  
Decarboxylase Deficiency

scholarly journals Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency

2012 ◽  
Vol 4 (134) ◽  
pp. 134ra61-134ra61 ◽  
Author(s):  
W.-L. Hwu ◽  
S.-i. Muramatsu ◽  
S.-H. Tseng ◽  
K.-Y. Tzen ◽  
N.-C. Lee ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Amino Acid ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
Decarboxylase Deficiency

Atypical Presentation of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency with Developmental Epileptic Encephalopathy

2021 ◽  
Author(s):  
Francesca Marchese ◽  
Elena Faedo ◽  
Maria Stella Vari ◽  
Patrizia Bergonzini ◽  
Michele Iacomino ◽  
...  
Keyword(s):  
Amino Acid ◽  
Autosomal Recessive ◽  
Epileptic Encephalopathy ◽  
Dopa Decarboxylase ◽  
Acid Decarboxylase ◽  
Homozygous Mutation ◽  
Amino Acid Decarboxylase ◽  
Pathogenic Variants ◽  
Neurological Features ◽  
Decarboxylase Deficiency

AbstractAromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive metabolic disorder resulting from disease-causing pathogenic variants of the dopa decarboxylase (DDC) gene. The neurological features of AADC deficiency include early-onset hypotonia, oculogyric crises, ptosis, dystonia, hypokinesia, impaired development, and autonomic dysfunction. We report a patient with genetically confirmed AADC deficiency presenting with developmental epileptic encephalopathy (DEE). We report a boy with severe intractable epileptic spasms and DEE. The patient was evaluated for cognitive and neurologic impairment. Exome sequencing revealed a homozygous mutation (NM_000790.4:c.121C > A; p.Leu41Met) in the DDC gene. This case expands the clinical spectrum of AADC deficiency and strengthens the association between dopa decarboxylase deficiency and epilepsy. Additional studies are warranted to clarify the mechanisms linking dopa decarboxylase dysfunction to DEE.

Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency

2013 ◽  
Vol 28 (4) ◽  
pp. 556-557 ◽  
Author(s):  
Mario Mastrangelo ◽  
Caterina Caputi ◽  
Serena Galosi ◽  
Maria Teresa Giannini ◽  
Vincenzo Leuzzi
Keyword(s):  
Amino Acid ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
Decarboxylase Deficiency
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