Aromatic amino acid decarboxylase deficiency

An autosomal recessive inborn error in neurotransmitter metabolism that leads to combined SEROTONIN and CATECHOLAMINE deficiency and is clinically characterized by vegetative symptoms, oculogyric crises, DYSTONIA, and severe neurologic dysfunction, usually beginning in infancy or childhood. Caused by mutations in the DDC gene. OMIM: 107930

Also Known As:

Networked: 72 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Neurodevelopmental Disorders
2.	Phenylketonurias (Phenylketonuria)
3.	Spinal Muscular Atrophy (Progressive Muscular Atrophy)
4.	Propionic Acidemia
5.	Parkinson Disease (Parkinson's Disease)

Experts

1.	Opladen, Thomas: 7 articles (01/2021 - 01/2017)
2.	Hwu, Wuh-Liang: 5 articles (01/2022 - 12/2011)
3.	Lee, Ni-Chung: 4 articles (01/2022 - 04/2014)
4.	Artuch, Rafael: 4 articles (01/2021 - 01/2017)
5.	Blau, Nenad: 4 articles (01/2021 - 12/2004)
6.	Pons, Roser: 4 articles (01/2021 - 01/2017)
7.	Hoffmann, Georg F: 4 articles (09/2020 - 03/2004)
8.	Pearl, Phillip L: 4 articles (01/2017 - 03/2004)
9.	Chien, Yin-Hsiu: 3 articles (01/2022 - 04/2014)
10.	Bertoldi, Mariarita: 3 articles (01/2021 - 03/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Aromatic amino acid decarboxylase deficiency:

1.	Dopamine (Intropin)FDA LinkGeneric 12/01/2010 - "Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox." 04/01/2005 - "Visualisation of impaired dopamine biosynthesis in a case of aromatic L-amino acid decarboxylase deficiency by co-registered 18F-FDOPA PET and magnetic resonance imaging." 07/01/1999 - "Patients with L-aromatic amino acid decarboxylase deficiency had decreased dopamine sulfate levels, and patients with sympathetic neurocirculatory failure had normal levels. " 05/01/2023 - "Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, early-onset, dyskinetic encephalopathy mostly reflecting a defective synthesis of brain dopamine and serotonin. " 08/01/2006 - "This report presents the case of an adult male with aromatic L-amino acid decarboxylase deficiency who developed serious cardiac rhythm disturbances during treatment with intravenous dopamine and norepinephrine for severe hypotension. "
2.	Serotonin (5 Hydroxytryptamine)IBA 05/01/1986 - "The two major objectives of this study were (1) to ascertain that the DDC encoded by the gene Ddc was the only decarboxylase utilized in serotonin (5HT)-containing neurons and (2) to determine the effect of DDC deficiency on the development of 5HT-immunoreactive neurons. " 09/01/1997 - "Aromatic L-amino acid decarboxylase deficiency is an inborn error of metabolism that leads to combined serotonin and catecholamine deficiency, first described by Hyland et al in 1990. " 05/01/2023 - "Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, early-onset, dyskinetic encephalopathy mostly reflecting a defective synthesis of brain dopamine and serotonin. " 11/13/2023 - "Aromatic l-amino acid decarboxylase deficiency (AADC-DY) is caused by one or more mutations in the DDC gene, resulting in the deficit in catecholamines and serotonin neurotransmitters. " 09/01/2020 - "Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare neurotransmitter metabolic disorder caused by DDC gene mutations, which leads to the metabolic disturbance of dopamine and serotonin. "
3.	3-methoxytyrosineIBA 09/01/2023 - "Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency." 01/01/2021 - "Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience." 01/01/2016 - "3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency." 01/01/2016 - "Meanwhile, the accumulation of both N-acetylvanilalanine and 3-methoxytyrosine indicated aromatic L-amino acid decarboxylase deficiency. " 04/20/2014 - "Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots."
4.	Levodopa (L Dopa)FDA LinkGeneric 03/01/2004 - "Levodopa-responsive aromatic L-amino acid decarboxylase deficiency." 06/01/2000 - "The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients." 07/01/1981 - "L-dopa-resistant Parkinsonism due to dopa decarboxylase deficiency?" 01/01/2014 - "Aromatic amino acid decarboxylase deficiency presents with prominent extrapyramidal and autonomic features and CSF monoamine deficiency with increased 3-O-methyldopa, a by-product of accumulated L-DOPA. " 07/01/2010 - "These findings suggest that maintaining adequate pyridoxal 5'-phosphate availability may be important for optimal treatment of aromatic l-amino acid decarboxylase deficiency and l-dopa-responsive conditions."
5.	Carboxy-LyasesIBA 01/01/2017 - "This is corroborated by the increasingly important role played by these decarboxylases in several different pathological states (autoimmune diseases, type I diabetes, Parkinson's disease, aromatic amino acid decarboxylase deficiency, Tourette's syndrome and cholangiocarcinoma)." 05/01/1986 - "The two major objectives of this study were (1) to ascertain that the DDC encoded by the gene Ddc was the only decarboxylase utilized in serotonin (5HT)-containing neurons and (2) to determine the effect of DDC deficiency on the development of 5HT-immunoreactive neurons. "
6.	Trimethaphan (Trimetaphan)IBA 07/01/1999 - "In this study, plasma concentrations of dopamine sulfate were measured after a meal, after fasting for 4 days, and during i.v. L-DOPA, nitroprusside, or trimethaphan infusion in volunteers; after dopamine infusion in patients with L-aromatic-amino-acid decarboxylase deficiency; in arterial and portal venous plasma of gastrointestinal surgery patients; and in patients with sympathetic neurocirculatory failure. "
7.	Sulfates (Sulfates, Inorganic)IBA 07/01/1999 - "Patients with L-aromatic amino acid decarboxylase deficiency had decreased dopamine sulfate levels, and patients with sympathetic neurocirculatory failure had normal levels. " 07/01/1999 - "In this study, plasma concentrations of dopamine sulfate were measured after a meal, after fasting for 4 days, and during i.v. L-DOPA, nitroprusside, or trimethaphan infusion in volunteers; after dopamine infusion in patients with L-aromatic-amino-acid decarboxylase deficiency; in arterial and portal venous plasma of gastrointestinal surgery patients; and in patients with sympathetic neurocirculatory failure. "
8.	Nitroprusside (Sodium Nitroprusside)FDA LinkGeneric 07/01/1999 - "In this study, plasma concentrations of dopamine sulfate were measured after a meal, after fasting for 4 days, and during i.v. L-DOPA, nitroprusside, or trimethaphan infusion in volunteers; after dopamine infusion in patients with L-aromatic-amino-acid decarboxylase deficiency; in arterial and portal venous plasma of gastrointestinal surgery patients; and in patients with sympathetic neurocirculatory failure. "
9.	Neurotransmitter Agents (Neurotransmitter)IBA 01/01/2022 - "Aromatic L-amino acid decarboxylase deficiency results in decreased neurotransmitter levels and severe motor dysfunction. " 10/01/2021 - "Aromatic L-amino acid decarboxylase deficiency is a rare neurometabolic disease due to impaired decarboxylation of neurotransmitter precursors to its active form. " 08/01/2020 - "Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare autosomal recessive disorder of neurotransmitter synthesis with lack of sympathetic autoregulation. " 07/06/2010 - "Based on clinical symptoms, CSF neurotransmitters profile is highly indicative for the diagnosis of aromatic l-amino acid decarboxylase deficiency. " 06/01/2021 - "Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy."
10.	Norepinephrine (Noradrenaline)FDA LinkGeneric 08/01/2006 - "This report presents the case of an adult male with aromatic L-amino acid decarboxylase deficiency who developed serious cardiac rhythm disturbances during treatment with intravenous dopamine and norepinephrine for severe hypotension. " 01/01/2017 - "Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. " 01/01/2020 - "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, behavioral, and autonomic symptoms. " 01/01/2022 - "Aromatic L-amino acid decarboxylase deficiency is an autosomal recessive disorder that results in a lack of neurotransmitters including serotonin, dopamine, noradrenaline and adrenaline. "

Therapies and Procedures

1.	Therapeutics 01/01/2021 - "Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies." 01/01/2020 - "Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview." 10/15/2014 - "A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications." 01/01/2019 - "In an international collaboration led by Agilis with National Taiwan University (NTU) Hospital and the Therapeutics for Rare and Neglected Diseases (TRND) program of the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health, Agilis' gene therapy for aromatic l-amino acid decarboxylase deficiency (AADC), AGIL-AADC, was granted biologics license application (BLA)-ready status by the FDA in 2018, only 18 months after being licensed from NTU by Agilis. " 05/01/2017 - "Expert commentary: Recently, gene therapies with mutation-adapted U1 snRNAs have been conducted on animal models, including aromatic l-amino acid decarboxylase deficiency and spinal muscular atrophy. "
2.	Anesthesia 08/01/2020 - "Anesthesia Management for Cesarean Delivery in a Woman With Aromatic L-Amino Acid Decarboxylase Deficiency: A Case Report." 01/01/2006 - "Anesthesia management in a young child with aromatic l-amino acid decarboxylase deficiency."
3.	Drug Therapy (Chemotherapy) 06/01/2009 - "Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up."