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ALLMedicine™ Aromatic L-amino Acid Decarboxylase Deficiency Center

Research & Reviews  39 results

Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for pr...
https://doi.org/10.1093/brain/awab123
Brain : a Journal of Neurology; Rossignoli G, Krämer K et. al.

Mar 18th, 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...

Anesthesia Management for Cesarean Delivery in a Woman With Aromatic L-Amino Acid Decar...
https://doi.org/10.1213/XAA.0000000000001275
A&A Practice; Viviani C, Buelli E et. al.

Aug 27th, 2020 - Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare autosomal recessive disorder of neurotransmitter synthesis with lack of sympathetic autoregulation. Owing to hemodynamic regulatory dysfunction and impairment of sympathetic regulati...

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an int...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540529
Journal of Inherited Metabolic Disease; Pearson TS, Gilbert L et. al.

May 5th, 2020 - Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin, leading to a complex syndrome of motor, beh...

Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
https://doi.org/10.1016/j.pediatrneurol.2019.11.022
Pediatric Neurology; Hyland K, Reott M

Feb 29th, 2020 - Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive metabolic disorder that results from disease-causing pathogenic variants of the dopa decarboxylase (DDC) gene. Loss of dopamine and serotonin production in the brain f...

Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057092
Molecular Genetics & Genomic Medicine; Dai W, Lu D et. al.

Jan 24th, 2020 - Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive inherited disorder which is characterized by neurological and vegetative symptoms. To date, only 130 patients with AADCD have been reported worldwide. We demonst...

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Clinicaltrials.gov  51 results

Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for pr...
https://doi.org/10.1093/brain/awab123
Brain : a Journal of Neurology; Rossignoli G, Krämer K et. al.

Mar 18th, 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...

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

Sep 17th, 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 Diagnosis and Management
https://reference.medscape.com/viewarticle/936001_2

Sep 17th, 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-...

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

Sep 17th, 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

Sep 17th, 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...

see more →

News  7 results

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

Sep 17th, 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 Diagnosis and Management
https://reference.medscape.com/viewarticle/936001_2

Sep 17th, 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-...

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

Sep 17th, 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

Sep 17th, 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 17th, 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...

see more →