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About 90 results

ALLMedicine™ Aromatic L-amino Acid Decarboxylase Deficiency Center

Research & Reviews  28 results

Burden of illness of aromatic L-amino acid decarboxylase deficiency: a survey of physic...
https://doi.org/10.1080/03007995.2022.2078097
Current Medical Research and Opinion; Saberian S, Rowan P et. al.

May 17th, 2022 - Aromatic L-amino acid decarboxylase deficiency (AADCd) is an ultra-rare genetic neurometabolic disorder caused by mutations in the DDC gene. This retrospective, noninterventional study was designed to describe the burden of AADCd including the ass...

Burden and severity of disease of aromatic L-amino acid decarboxylase deficiency: a sys...
https://doi.org/10.1080/03007995.2022.2072090
Current Medical Research and Opinion; Buesch K, Zhang R et. al.

Apr 30th, 2022 - The objective was to investigate the severity of aromatic L-amino acid decarboxylase deficiency (AADCd) as reported in the published literature and to collate evidence of the clinical manifestations of AADCd, and the impact of the disease on patie...

Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8822132
Molecular Therapy : the Journal of the American Society O... Tai CH, Lee NC et. al.

Nov 12th, 2021 - Aromatic L-amino acid decarboxylase deficiency results in decreased neurotransmitter levels and severe motor dysfunction. Twenty-six patients without head control received bilateral intraputaminal infusions of a recombinant adeno-associated virus ...

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 - Pre existing 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 illu...

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,...

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Clinicaltrials.gov  1 results

Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
https://clinicaltrials.gov/ct2/show/NCT02399761

Apr 28th, 2017 - Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency. The routine newborn screening dried blood spots sample will be used to test if 3-O-methyldopa (3-OMD) concentrat...

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News  7 results

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency (AADCD)
https://www.medscape.com/viewarticle/936000

Aug 5th, 2021 - 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_3

Sep 18th, 2020 - Answer 2/5 Which of the following conditions presents in a similar way to AADC deficiency? Your peers chose: Gaucher disease 0% Mucopolysaccharidosis 0% Alpha-1 antitrypsin deficiency 0% Tetrahydrobiopterin (BH4) deficiency 0% BH4 deficiency prese...

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...

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