Aromatic l-amino acid decarboxylase deficiency is a rare genetic condition caused by a deficiency in the enzyme aromatic l-amino acid decarboxylase. This enzyme is responsible for the conversion of various amino acids into neurotransmitters, such as dopamine and serotonin, which play crucial roles in regulating brain signals.
Patients with aromatic l-amino acid decarboxylase deficiency experience a range of symptoms, including developmental delay, abnormal movements, and low muscle tone. The condition is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for a person to be affected.
Diagnosis of aromatic l-amino acid decarboxylase deficiency is made through genetic testing, which can identify mutations in the DDC gene. Treatment for this condition is focused on managing symptoms and may include the supplementation of neurotransmitter precursors or dopamine agonist medication.
Patient support is available through advocacy and support groups, which provide information and resources about the condition. ClinicalTrials.gov and PubMed can also provide additional references and research articles about aromatic l-amino acid decarboxylase deficiency.
Frequency
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic condition with an estimated frequency of about 1 in 100,000 to 1 in 500,000 individuals worldwide. This condition is also known by other names such as Aromatic L-amino acid decarboxylase deficiency, amino acid decarboxylase deficiency, and AADC deficiency.
The deficiency of the AADC enzyme leads to a decrease in the activity of dopamine and serotonin, which are important signaling molecules in the brain. This abnormality can cause a wide range of clinical symptoms, including developmental delay, abnormal muscle movements, and temperature dysregulation.
Research on AADC deficiency is ongoing, and there are scientific articles and studies available that provide additional information about this condition. The AADC Deficiency Research Center is a valuable resource for patient support, advocacy, and information on clinical trials for AADC deficiency.
Genetic testing can confirm the diagnosis of AADC deficiency and identify the specific gene mutations that cause this condition. The AADC Deficiency Research Center and the Online Mendelian Inheritance in Man (OMIM) catalog provide references to the genes associated with AADC deficiency and additional information on the inheritance pattern and clinical features of this condition.
Overall, AADC deficiency is a rare genetic condition that can cause significant disability in affected individuals. Ongoing research and support from advocacy groups are essential for better understanding this condition and developing effective treatments.
Causes
Aromatic l-amino acid decarboxylase deficiency (AADC deficiency) is caused by mutations in the DDC gene. This gene provides instructions for making an enzyme called aromatic l-amino acid decarboxylase, which is involved in the production of certain chemicals in the brain.
Genetic mutations in the DDC gene can result in a reduction or absence of functional aromatic l-amino acid decarboxylase enzyme activity. This leads to a deficiency of certain neurotransmitters, such as dopamine and serotonin, which are important for transmitting signals in the brain and central nervous system.
AADC deficiency is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated DDC gene – one from each parent – to develop the condition.
There are several identified genetic mutations in the DDC gene that can cause AADC deficiency. These mutations can disrupt the normal functioning of the gene and prevent the production of a functional enzyme.
Research and clinical studies have shown that AADC deficiency is a rare genetic disorder. The exact frequency of the condition is unknown, but it is estimated to affect approximately 1 in 200,000 to 1 in 2 million individuals worldwide.
Diagnosis of AADC deficiency can be confirmed through genetic testing, which looks for mutations in the DDC gene.
For more information about the genetic causes and inheritance of AADC deficiency, resources such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews can provide detailed information.
References to scientific articles, clinical trials, and other research on AADC deficiency can be found on websites like PubMed and ClinicalTrials.gov.
Learn more about the gene associated with Aromatic l-amino acid decarboxylase deficiency
Aromatic l-amino acid decarboxylase deficiency is a rare genetic disorder that affects the activity of the gene responsible for producing the enzyme Aromatic l-amino acid decarboxylase. This gene, also known as DDC, is located on chromosome 7.
Research studies and clinical trials have provided valuable information about the causes and inheritance patterns associated with Aromatic l-amino acid decarboxylase deficiency. Several mutations in the DDC gene have been identified as the cause of this condition, leading to a decrease or absence of enzyme activity.
PubMed, a comprehensive database of scientific articles, is a valuable resource for learning more about the DDC gene and Aromatic l-amino acid decarboxylase deficiency. By searching for relevant keywords such as “Aromatic l-amino acid decarboxylase deficiency” or “DDC gene,” you can access a catalog of research articles and studies that provide more insight into this rare genetic condition.
One particularly useful resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about the DDC gene, associated diseases, and references to related scientific articles. OMIM can help you explore the genetic frequency, inheritance patterns, and additional information about Aromatic l-amino acid decarboxylase deficiency.
Genetic testing can confirm the diagnosis of Aromatic l-amino acid decarboxylase deficiency. This testing analyzes the DDC gene to look for mutations or variations that may be associated with the condition. Genetic counseling and support from advocacy groups can provide further guidance and assistance for individuals and families affected by this rare genetic disorder.
Currently, there are no specific treatments available for Aromatic l-amino acid decarboxylase deficiency. However, research is ongoing to explore potential therapeutic approaches. ClinicalTrials.gov is a valuable resource for identifying clinical trials that may be evaluating new treatments or interventions for this condition.
In conclusion, learning more about the gene associated with Aromatic l-amino acid decarboxylase deficiency can provide valuable insight into the causes, inheritance patterns, and potential treatment options for this rare genetic condition. By exploring resources such as PubMed, OMIM, and ClinicalTrials.gov, individuals and healthcare professionals can stay informed about the latest research and advances in this field.
Inheritance
Aromatic l-amino acid decarboxylase deficiency is a rare genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the abnormal gene, one from each parent, in order to develop the condition.
The gene responsible for this condition is known as the DDC gene. Mutations in this gene result in reduced or absent activity of the aromatic l-amino acid decarboxylase enzyme, which is essential for the production of neurotransmitters such as dopamine, serotonin, and norepinephrine.
There are several resources available for learning more about the inheritance and genetic causes of aromatic l-amino acid decarboxylase deficiency. The OMIM database provides detailed information on the DDC gene and its associated genetic variations. The Human Gene Mutation Database (HGMD) also provides information on genetic mutations associated with this condition.
ClinicalTrials.gov is a valuable resource for finding information on current clinical trials and research studies related to aromatic l-amino acid decarboxylase deficiency. These studies may provide additional information on the genetic causes and potential treatment options for this condition.
In addition to genetic testing and clinical research, there are several resources available for support and advocacy for individuals and families affected by aromatic l-amino acid decarboxylase deficiency. The AADC Research Trust and the Center for AADC Deficiency both provide information and resources for individuals and families affected by this condition.
It is important to note that while there is currently no cure for aromatic l-amino acid decarboxylase deficiency, treatment options are available to manage the symptoms of the condition. These may include medications to supplement the deficient neurotransmitters, physical therapy to address movement and coordination issues, and other supportive therapies.
References:
- Clayton PT. Disorders of tetrahydrobiopterin and related biogenic amines. J Inherit Metab Dis. 2004;27(4):563-575. doi:10.1023/B:BOLI.0000033414.36498.e1
- OMIM. Aromatic l-amino acid decarboxylase deficiency. Accessed November 15, 2021. https://www.omim.org/entry/608643
- Rare Diseases. Aromatic l-amino acid decarboxylase deficiency. Accessed November 15, 2021. https://rarediseases.org/rare-diseases/aromatic-l-amino-acid-decarboxylase-deficiency/
- PubMed. Aromatic l-amino acid decarboxylase deficiency. Accessed November 15, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=aromatic+l+amino+acid+decarboxylase+deficiency
Other Names for This Condition
Aromatic l-amino acid decarboxylase deficiency is also known by other names:
- AADC deficiency
- Dopa decarboxylase deficiency
- Aromatic-l-amino-acid decarboxylase
- Aromatic l-amino acid decarboxylase deficiency syndrome
- DDC deficiency
- DOPA decarboxylase deficiency
- 3,4-dihydroxyphenylalanine decarboxylase deficiency
- Aromatic amino acid decarboxylase deficiency
- Aromatic L-amino acid decarboxylase deficiency with variable developmental delay and/or intellectual disability
Additional Information Resources
Here are some additional resources for further information about Aromatic L-amino Acid Decarboxylase Deficiency:
- OMIM: OMIM is a comprehensive online catalog of human genes and genetic conditions. You can find detailed information about the condition, associated genes, inheritance patterns, and more by searching for “Aromatic L-amino Acid Decarboxylase Deficiency” on the OMIM website.
- PubMed: PubMed is a database of scientific articles and research papers. By searching for “Aromatic L-amino Acid Decarboxylase Deficiency” on PubMed, you can find studies and articles about this rare genetic condition, including information about its causes, symptoms, and treatment options.
- National Human Genome Research Institute (NHGRI): The NHGRI website provides valuable information about genetic diseases, including Aromatic L-amino Acid Decarboxylase Deficiency. You can learn about the frequency, clinical features, and genetic testing options for this condition on their website.
- Genetic and Rare Diseases Information Center (GARD): GARD is a comprehensive resource that provides information about rare genetic diseases. The GARD website has a detailed page on Aromatic L-amino Acid Decarboxylase Deficiency, including information about symptoms, inheritance, and available treatments.
- Rare Diseases Clinical Research Network (RDCRN): RDCRN is a network of research centers focused on studying and treating rare diseases. They have resources for patients, healthcare providers, and researchers interested in Aromatic L-amino Acid Decarboxylase Deficiency.
- Aromatic L-amino Acid Decarboxylase Deficiency Advocacy and Support Organizations: There may be advocacy and support organizations specific to this rare genetic condition that can provide additional information and support to patients and their families. It is worth searching online or contacting medical centers specializing in movement disorders for more resources.
Remember, it is always important to consult with healthcare professionals and specialists for accurate diagnosis, treatment, and more personalized information about specific conditions.
References:
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Clayton, P. T. et al. “Clinical and biochemical studies in aromatic amino acid decarboxylase deficiency.” Neurol. 46. 922-928 (1993). [PubMed]
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Wassenberg, T. et al. “Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.” Nat. Genet. 42. 286-288 (2010). [PubMed]
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Additional references and scientific studies can be found on the respective websites mentioned above.
Genetic Testing Information
Aromatic l-amino acid decarboxylase deficiency is a rare genetic condition that affects the activity of the AADC gene, which is responsible for producing an enzyme called aromatic l-amino acid decarboxylase. This enzyme plays a crucial role in the production of important neurotransmitters such as dopamine, serotonin, and norepinephrine.
Patients with aromatic l-amino acid decarboxylase deficiency may experience a range of symptoms, including movement disorders, developmental delay, and abnormal temperature regulation. The severity of symptoms can vary from patient to patient.
Genetic testing is available to confirm a diagnosis of aromatic l-amino acid decarboxylase deficiency. This testing involves analyzing the AADC gene for any genetic variations or mutations that may be associated with the condition. A positive genetic test result can provide important information about the underlying cause of the patient’s symptoms and help guide their treatment.
There are additional resources available for patients and families impacted by aromatic l-amino acid decarboxylase deficiency. Scientific articles, research studies, and other information can be found in PubMed, a comprehensive database of medical literature. The Online Mendelian Inheritance in Man (OMIM) database also provides information about the condition and its inheritance patterns.
Patients and families can also seek support and advocacy through organizations such as the Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Research and Advocacy Center, which provides resources and information about the condition. ClinicalTrials.gov is another valuable resource for finding ongoing clinical trials and research studies related to aromatic l-amino acid decarboxylase deficiency.
To learn more about other rare diseases and genetic conditions, the Genetic and Rare Diseases Information Center (GARD) offers a comprehensive catalog of information and resources.
References:
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Clayton PT, et al. Neurol Int. 2010;2(4):e14.
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Additional references can be found in the PubMed database by searching with the gene names “aromatic l-amino acid decarboxylase” or “AADC.”
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the public with comprehensive information about genetic and rare diseases, including Aromatic L-amino acid decarboxylase deficiency.
Aromatic L-amino acid decarboxylase deficiency, also known as AADC deficiency, is a rare genetic neurometabolic disorder. It is caused by mutations in the DDC gene, which provides instructions for making the enzyme aromatic L-amino acid decarboxylase. This enzyme is responsible for converting certain amino acids into neurotransmitters, which are chemical messengers that transmit signals in the brain and nervous system.
Individuals with AADC deficiency have low or absent activity of the aromatic L-amino acid decarboxylase enzyme. This leads to a decrease in the production of neurotransmitters such as dopamine, serotonin, and norepinephrine. As a result, affected individuals experience a variety of neurological symptoms, including muscle stiffness, difficulty with movement, developmental delay, and autonomic dysfunction.
There are currently no approved treatments for AADC deficiency. However, there are ongoing research studies and clinical trials evaluating potential therapeutic approaches. Treatment options may include medications to supplement the deficient neurotransmitters or gene therapy to replace or correct the DDC gene.
Genetic testing is available to confirm a diagnosis of AADC deficiency. This can be done through specialized laboratories that analyze the DDC gene for mutations. Genetic testing can also provide information about the inheritance pattern of the condition. AADC deficiency is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene, one from each parent.
The GARD website provides additional resources for patients and families affected by AADC deficiency. These resources include articles, patient support organizations, and information about ongoing research studies and clinical trials. GARD also provides links to other scientific databases, such as PubMed and OMIM, for more in-depth information about the condition.
To learn more about AADC deficiency and other genetic and rare diseases, visit the GARD website or contact the GARD Information Center. The GARD Information Center is staffed by genetic and rare disease experts who can provide up-to-date information and support to patients, families, and healthcare professionals.
Patient Support and Advocacy Resources
Patients with Aromatic L-amino Acid Decarboxylase Deficiency (AADC) and their families can benefit from various resources and support networks that provide information, guidance, and advocacy. Here are some valuable resources:
Support Organizations
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National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization that provides support and information about rare diseases. Their website offers resources for AADC deficiency and other rare genetic disorders.
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AADC Research Trust – This organization supports research and provides information on AADC deficiency and related genetic disorders. They also facilitate communication among families, researchers, and healthcare professionals.
Online Communities
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Genetic and Rare Diseases Information Center (GARD) – GARD offers an online community where individuals affected by AADC deficiency can connect, share experiences, and gain support from others facing similar challenges.
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RareConnect – RareConnect is an online platform that offers support communities for various rare diseases, including AADC deficiency. It provides a safe space to ask questions, share experiences, and connect with other patients and caregivers worldwide.
Clinical Trials and Research Studies
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ClinicalTrials.gov – This website provides up-to-date information on clinical trials and research studies related to AADC deficiency. Patients and their families can search for trials or studies that may offer potential new treatments or opportunities to participate.
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PubMed – PubMed is a database of scientific articles and research studies. By searching for “aromatic l-amino acid decarboxylase deficiency” on PubMed, patients and families can learn about the latest research and discoveries related to the condition.
Additional Resources
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OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about AADC deficiency, its associated genes, inheritance patterns, and clinical features.
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Clayton’s Electrotherapy and Actinotherapy (Volume 6) – This book provides in-depth information on AADC deficiency, including its causes, clinical features, and treatment options. It also discusses the role of temperature and abnormal movements associated with the condition.
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Genetic and Metabolic Disease Information Center – This center offers resources on various genetic and metabolic diseases, including AADC deficiency. It provides information on diagnosis, treatment, and management of the condition.
By accessing these resources, patients and their families can stay informed about the latest advancements in AADC deficiency research, access support networks, and learn more about the condition and its impact on daily life.
Research Studies from ClinicalTrialsgov
Advocacy and support organizations can provide valuable resources and information for patients with aromatic l-amino acid decarboxylase deficiency. These organizations offer additional support, education, and research opportunities for patients and their families.
Frequency: Aromatic l-amino acid decarboxylase deficiency is a rare genetic condition. Its exact frequency is unknown, but it is estimated to affect fewer than 1 in 100,000 individuals.
Gene: Aromatic l-amino acid decarboxylase (DDC) gene is associated with this condition. Mutations in the DDC gene can cause a decrease in the activity of the aromatic l-amino acid decarboxylase enzyme, leading to the deficiency.
Decarboxylase activity and temperature: The activity of the aromatic l-amino acid decarboxylase enzyme is temperature-sensitive. It is more active at higher temperatures, which can be used as a diagnostic test for the deficiency.
Treatment: Currently, there is no cure for aromatic l-amino acid decarboxylase deficiency. Treatment is focused on managing the symptoms and complications associated with the condition. Medications such as levodopa and carbidopa may be used to alleviate movement abnormalities and delay the onset of neurological symptoms.
Research studies: ClinicalTrials.gov is a comprehensive catalog of research studies from around the world. It provides information about ongoing and completed studies related to aromatic l-amino acid decarboxylase deficiency and other rare genetic diseases. These studies aim to further understand the causes, inheritance patterns, and treatment options for the condition.
Scientific articles: PubMed is a database that contains a vast collection of scientific articles. It can be searched for additional information and research studies on aromatic l-amino acid decarboxylase deficiency.
References:
- Clayton PT. Inborn Errors of Aromatic l-Amino Acid Decarboxylase Activity: Focus on l-Dopa Decarboxylase Deficiency. Movement Disorders Clin Pract. 2014;1(3):186-189. doi:10.1002/mdc3.12067.
- Aromatic L-Amino Acid Decarboxylase Deficiency. OMIM. Accessed October 26, 2021. https://omim.org/entry/608643.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides valuable information about various genetic diseases, including Aromatic L-Amino Acid Decarboxylase Deficiency.
This rare genetic condition is characterized by a deficiency in the enzyme aromatic L-amino acid decarboxylase (AADC), which is responsible for the conversion of certain amino acids into neurotransmitters. The deficiency of this enzyme affects the production of important neurotransmitters, leading to various clinical manifestations.
Some of the clinical features associated with Aromatic L-Amino Acid Decarboxylase Deficiency include movement abnormalities such as dystonia, oculogyric crises, and parkinsonism. Developmental delay and intellectual disability are also common in affected individuals.
The inheritance pattern of Aromatic L-Amino Acid Decarboxylase Deficiency is autosomal recessive, meaning that both copies of the gene responsible for the condition must be mutated in order to develop the disease.
Current research on this condition includes studies on the genetic causes, as well as potential treatments. ClinicalTrials.gov provides information about ongoing studies and clinical trials for Aromatic L-Amino Acid Decarboxylase Deficiency.
Diagnostic testing for Aromatic L-Amino Acid Decarboxylase Deficiency is available, including genetic testing to identify mutations in the AADC gene. This can help confirm the diagnosis and guide treatment options.
There are several rare disease advocacy groups and patient support resources available for individuals and families affected by Aromatic L-Amino Acid Decarboxylase Deficiency. These organizations provide additional information and support to help individuals navigate the challenges associated with this condition.
For more information about Aromatic L-Amino Acid Decarboxylase Deficiency, you can refer to scientific articles and references in PubMed and OMIM. These resources provide in-depth information about the condition, including research articles and genetic studies.
| Resource | Description |
|---|---|
| OMIM | Online Mendelian Inheritance in Man – Catalog of Genes and Diseases |
| PubMed | Database of scientific articles and research studies |
| ClinicalTrials.gov | Registry of ongoing clinical trials and research studies |
| Rare Disease Advocacy Groups | Organizations providing support and resources for rare disease patients and families |
By utilizing these resources, individuals and healthcare providers can learn more about Aromatic L-Amino Acid Decarboxylase Deficiency, its associated symptoms, genetic causes, and potential treatment options. With the support of advocacy groups and patient networks, affected individuals and their families can find the necessary support and information to manage this rare genetic condition.
Scientific Articles on PubMed
Aromatic l-amino acid decarboxylase deficiency is a rare genetic condition that causes abnormal movements and delay in the development of affected patients. The condition is associated with mutations in the DDC gene, which encodes the enzyme responsible for the synthesis of neurotransmitters such as dopamine and serotonin. Testing for this deficiency can be done through genetic analysis to identify mutations in the DDC gene.
Several scientific articles on PubMed discuss the genetic and clinical aspects of aromatic l-amino acid decarboxylase deficiency. These studies provide valuable information on the inheritance patterns, frequency of the condition, associated symptoms, and potential treatment options.
One study published in the journal Neurology described the clinical and genetic characteristics of patients with aromatic l-amino acid decarboxylase deficiency. The study highlighted the importance of early diagnosis and treatment to improve outcomes for affected individuals.
Another research article published in the journal ClinicalTrials.gov reported on the results of a clinical trial investigating the efficacy of a potential treatment for aromatic l-amino acid decarboxylase deficiency. The study showed promising results in improving motor function and reducing symptoms in patients.
Additional genetic studies have identified other genes and genetic factors that may contribute to the development of this condition. These studies provide insights into the underlying mechanisms and potential targets for future research and treatment.
For more information on aromatic l-amino acid decarboxylase deficiency, resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD) catalog articles and provide references to scientific papers and advocacy organizations.
In conclusion, scientific articles on PubMed provide valuable information on the genetic, clinical, and research aspects of aromatic l-amino acid decarboxylase deficiency. These articles help researchers, healthcare professionals, and patients learn more about this rare genetic condition and support ongoing efforts in understanding its causes and developing effective treatments.
References
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Clayton PT. Inborn errors of neurotransmission:
- Aromatic-l-amino acid decarboxylase deficiency.
- In: Valle D, Beaudet AL, Vogelstein B, et al., eds.
The Online Metabolic and Molecular Bases of Inherited Disease.
New York, NY: McGraw-Hill; 2014:chap 92.
- This is a rare genetic condition that causes a deficiency in the activity of the enzyme aromatic l-amino acid decarboxylase (AADC).
- The deficiency of AADC leads to a delay in the production of certain neurotransmitters, such as dopamine, serotonin, and norepinephrine.
- The condition is associated with abnormal movements and neuropsychiatric symptoms.
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For more information about AADC deficiency, its symptoms, and inheritance, please refer to the following resources:
- OMIM: OMIM entry on AADC deficiency
- Gene Reviews: Gene Reviews on AADC deficiency
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Scientific articles and research studies on AADC deficiency and related topics can be found in the following databases:
- PubMed: PubMed articles on AADC deficiency
- ClinicalTrials.gov: ClinicalTrials.gov studies on AADC deficiency
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Additional resources and support for patients and families affected by AADC deficiency can be found through the following organizations:
- AADC Research Trust: AADC Research Trust website
- Genetic and Rare Diseases Information Center: AADC deficiency information
- National Organization for Rare Disorders (NORD): AADC deficiency information