AADC News

April 7, 2021April 7, 2021

Rapid Screening of Newborns for AADC Deficiency Possible, Study Says

AADC News

Diagnosing aromatic L-amino acid decarboxylase (AADC) deficiency  in newborns is “feasible” using dried blood spots and readily available equipment, allowing for earlier and more effective treatment, researchers report. The study detailing ... Read more

March 24, 2021March 24, 2021

New Patient-derived Nerve Cell Model Will Aid in Research, Testing

AADC News

Researchers have developed a patient-derived cell model of aromatic l-amino acid decarboxylase (AADC) deficiency that could provide important insights into the biological underpinnings of the disease, as well as serve ... Read more

March 17, 2021March 17, 2021

3-OMD Levels in Dried Blood Spots May Help to Diagnose AADC Deficiency

AADC News

Measuring 3-O-methyldopa (3-OMD) levels in dried blood spots could help in diagnosing aromatic L-amino-acid decarboxylase (AADC) deficiency, a recent study suggests. This approach would be less invasive for patients, who often ... Read more

March 10, 2021March 10, 2021

PTC Opens Online Resource to Help Doctors Diagnose AADC Deficiency

AADC News

A new online resource, called AADC Insights, aims to make it easier for healthcare professionals to diagnose and care for people with aromatic l-amino acid decarboxylase (AADC) deficiency. AADC deficiency ... Read more

March 10, 2021March 10, 2021

Intensive Care for AADC Deficiency

AADC News

If you have a child with aromatic l-amino acid decarboxylase (AADC) deficiency, they may be at an increased risk of needing intensive medical care. Here is more information about what ... Read more

March 4, 2021March 4, 2021

Review Highlights Gene Therapies That Greatly Improve Potential for Cure

AADC News

The science behind viral gene therapy — which may hold a potential cure in a single treatment for genetic diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency — was highlighted ... Read more

March 3, 2021March 3, 2021

Shoshin for AADC Caregivers

AADC News

Providing constant care and supervision to a child with a chronic disease such as aromatic l-amino acid decarboxylase (AADC) deficiency can be mentally, physically, and emotionally draining. A Japanese concept ... Read more

February 24, 2021February 24, 2021

About iNTD and How It Can Benefit Patients With AADC Deficiency

AADC News

The International Working Group on Neurotransmitter Related Disorders, known as iNTD, is an organization that seeks to raise awareness and improve the treatment of rare neurological conditions, including aromatic l-amino ... Read more

February 17, 2021February 17, 2021

Importance of Advocacy for AADC Deficiency

AADC News, COVID-19 News

If your child has a disease as rare as aromatic l-amino acid decarboxylase (AADC) deficiency, you might want to be involved with health advocacy efforts, which generally promote health and ... Read more

February 10, 2021February 10, 2021

AADC Deficiency and Scoliosis

AADC News

Children with aromatic l-amino acid decarboxylase (AADC) deficiency can, over time, develop scoliosis. This spinal curvature, along with other bone deformities, may be a consequence of ongoing muscle weakness and ... Read more

February 4, 2021February 5, 2021

Italian Expert Panel Issues Diagnostic, Treatment Guidelines

AADC News

An Italian panel of experts recommends using vitamin B6, dopamine agonists, and monoamine oxidase inhibitors (MAOIs) as first-line therapies for the treatment of people with rare aromatic l-amino acid decarboxylase ... Read more

February 3, 2021February 3, 2021

What Do Results of Various Tests Mean in AADC Deficiency?

AADC News

Various tests, particularly blood tests, are normally requested if a doctor suspects your child may have aromatic l-amino acid decarboxylase (AADC) deficiency. An initial test might look at blood levels ... Read more

January 28, 2021January 28, 2021

Non-invasive MRI May Help Diagnose AADC Deficiency

AADC News

Systematic analysis of non-invasive MRI brain scans of people with aromatic l-amino acid decarboxylase (AADC) deficiency identified disease-related changes in brain structure, which may help diagnose the disorder and related ... Read more

January 27, 2021January 27, 2021

AADC Deficiency and Infections

AADC News

Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare disease with a range of symptoms, often first evident very early in life. Because hypotonia (floppiness) and movement disorders are among ... Read more

January 21, 2021January 21, 2021

Genomic Database Screening Can Help Find People with Rare Diseases

AADC News

Screening genomic databases for disease-causing mutations could help identify people with possible aromatic l-amino acid decarboxylase (AADC) deficiency or other rare diseases, a study suggests. The findings were shared in ... Read more