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About 75 results

ALLMedicine™ Aromatic L-amino Acid Decarboxylase Deficiency Center

Research & Reviews  24 results

Reduced Immunogenicity of Intraparenchymal Delivery of Adeno-Associated Virus Serotype ...
https://doi.org/10.2174/1566523221666210922155413
Current Gene Therapy; Hwu WL, Muramatsu SI et. al.

Sep 24th, 2021 - Preexisting immunity to adeno-associated virus (AAV) poses a concern in AAV vector-mediated gene therapy. Localized administration of low doses of carefully chosen AAV serotypes can mitigate the risk of an immune response. This article will illust...

Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sister...
https://doi.org/10.1016/j.braindev.2021.07.002
Brain & Development; Hasegawa Y, Nishi E et. al.

Sep 6th, 2021 - Aromatic L-amino acid decarboxylase (AADC) deficiency, caused by a pathogenic variant in the dopa decarboxylase (DDC) gene, is a rare neurometabolic disorder in which catecholamine and serotonin are not synthesized. From a large number of reports,...

Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct del...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8275582
Nature Communications; Pearson TS, Gupta N et. al.

Jul 14th, 2021 - Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder characterized by deficient synthesis of dopamine and serotonin. It presents in early infancy, and causes severe developmental disability and lifelong motor, behaviora...

Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for pr...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8418346
Brain : a Journal of Neurology; Rossignoli G, Krämer K et. al.

Mar 19th, 2021 - Aromatic l-amino acid decarboxylase (AADC) deficiency is a complex inherited neurological disorder of monoamine synthesis which results in dopamine and serotonin deficiency. The majority of affected individuals have variable, though often severe c...

Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
https://doi.org/10.1002/mds.28362
Movement Disorders : Official Journal of the Movement Dis... Tristán-Noguero A, Borràs E et. al.

Nov 6th, 2020 - Genetic defects of monoamine neurotransmitters are rare neurological diseases amenable to treatment with variable response. They are major causes of early parkinsonism and other spectrum of movement disorders including dopa-responsive dystonia. Th...

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News  6 results

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency
https://reference.staging.medscape.com/viewarticle/936000

Sep 18th, 2020 - The enzyme aromatic L-amino acid decarboxylase (AADC) is involved in the synthesis of neurotransmitters. Patients born with AADC deficiency, which is an ultrarare, autosomal recessive neurometabolic disorder, may be asymptomatic at birth but can e...

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency
https://reference.medscape.com/viewarticle/936000_3

Sep 18th, 2020 - Answer 2/5 Among those with AADC deficiency who experience oculogyric crises regularly, which of the following is most accurate? Your peers chose: They recur every 2-5 days on average 0% They only appear in the presence of hypotonia 0% Symptoms ge...

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency
https://reference.medscape.com/viewarticle/936000

Sep 18th, 2020 - The enzyme aromatic L-amino acid decarboxylase (AADC) is involved in the synthesis of neurotransmitters. Patients born with AADC deficiency, which is an ultrarare, autosomal recessive neurometabolic disorder, may be asymptomatic at birth but can e...

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency Diagnosis and Management
https://reference.medscape.com/viewarticle/936001

Sep 18th, 2020 - The enzyme aromatic L-amino acid decarboxylase (AADC) is involved in the synthesis of neurotransmitters. AADC deficiency is an ultra-rare disorder caused by autosomal recessive mutations in the DDC gene. Patients born with AADC deficiency may be a...

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency Diagnosis and Management
https://reference.medscape.com/viewarticle/936001_2

Sep 18th, 2020 - Figure 1. Genetic mutation, conceptual image. At least two of the following three core diagnostic test results should be positive to confirm a diagnosis of AADC deficiency: Low CSF levels of 5-HIAA, HVA, and MHPG; increased CSF levels of 3-OMD, L-...

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