ALLMedicine™ Aromatic L-amino Acid Decarboxylase Deficiency Center

Sep 13th, 2022 - l-amino acid decarboxylase deficiency (AADCD) is an ultrarare autosomal recessive defect of biogenic amine synthesis that presents with early-onset encephalopathy progressing to severe neurological impairment and intellectual disability. We aimed ...

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...

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...

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 ...

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...

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...

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...

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...

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...

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...

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...