scholarly journals Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in Taiwan

2017 ◽  
pp. 1-6 ◽  
Author(s):  
Wuh-Liang Hwu ◽  
Yin-Hsiu Chien ◽  
Ni-Chung Lee ◽  
Mei-Hsin Li
Keyword(s):  
Amino Acid ◽  
Natural History ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
History Of ◽  
Decarboxylase Deficiency

Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency

2020 ◽  
Vol 51 (03) ◽  
pp. 229-232
Author(s):  
J. Micallef ◽  
S. Stockler-Ipsiroglu ◽  
C.D. van Karnebeek ◽  
R. Salvarinova-Zivkovic ◽  
G. Horvath
Keyword(s):  
Amino Acid ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Global Developmental Delay ◽  
Acid Decarboxylase ◽  
First Year ◽  
Amino Acid Decarboxylase ◽  
History Of ◽  
First Year Of Life ◽  
Decarboxylase Deficiency

AbstractAromatic L-amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive inborn error of metabolism in which several neurotransmitters including serotonin, dopamine, norepinephrine and epinephrine are deficient. Symptoms typically appear in the first year of life and include oculogyric crises and dystonia, hypotonia, and global developmental delay. Dystonia is of particular concern as a dystonic storm can ensue leading to rhabdomyolysis. Rhabdomyolysis can become life-threating and therefore its recognition and prompt management is of significant importance. Here we present two cases of patients with AADC deficiency and a history of dystonic crisis causing rhabdomyolysis. We hypothesize that in addition to the hypodopaminergic, a hypercholinergic state is contributing to the pathophysiology of dystonia in AADC deficiency, as well as to the associated rhabdomyolysis. We were able to prevent rhabdomyolysis in both patients with using Dantrolene and we suggest using a trial of this medication in cases of sustained dystonic crisis in AADC deficiency patients.

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

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
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