AADC News

August 5, 2020August 6, 2020

Oculogyric Crises in AADC Deficiency

AADC News

One of the symptoms of aromatic L‐amino acid decarboxylase (AADC) deficiency are oculogyric crises, which can be frightening for patients and their parents and caregivers. What happens in an oculogyric ... Read more

August 4, 2020August 4, 2020

Urine Test May Help Diagnose AADC Deficiency, Study Says

AADC News

A simple urine test using widely available methods may help diagnose people with aromatic L-amino acid decarboxylase (AADC) deficiency, a study reports.  The study, “Semi-quantitative detection of a vanillactic acid/vanillylmandelic ... Read more

July 29, 2020July 29, 2020

Vaccines and AADC Deficiency

AADC News, COVID-19 News

Parents or caregivers of children with aromatic L-amino acid decarboxylase (AADC) deficiency may be wondering whether vaccines are safe for these patients. What are vaccines? A vaccine is a treatment ... Read more

July 22, 2020July 22, 2020

About the AADC Diagnostic Testing Program

AADC News

There are only about 100 reported cases of aromatic l-amino acid decarboxylase (AADC) deficiency globally. That’s partly because some patients do not receive the right diagnosis and doctors think they have cerebral ... Read more

July 21, 2020July 21, 2020

AADC Community Invited to Submit Works to 2020 Rare Artist Contest

AADC News

To raise awareness of the rare disease community and celebrate the creativity of its members, the EveryLife Foundation for Rare Diseases is seeking submissions to the 2020 Rare Artist contest. ... Read more

July 15, 2020July 15, 2020

Traveling Safely With a Child Who Has AADC Deficiency

AADC News

Advanced planning is important when traveling with a child who has aromatic l-amino acid decarboxylase (AADC) deficiency. Healthcare Be sure to take your child to see his or her primary physician ... Read more

July 14, 2020July 14, 2020

Non-invasive Urine Test May Help in AADC Deficiency Diagnosis, Case Report Says

AADC News, COVID-19 News

A case study of a 3-month-old patient provided evidence to support the use of a urine organic acid analysis in the diagnosis of aromatic l-amino acid decarboxylase (AADC) deficiency, offering ... Read more

July 8, 2020July 8, 2020

Genetic Counseling for Families Affected by AADC Deficiency

AADC News

If you or a family member has a genetic disease like aromatic L-amino acid decarboxylase (AADC) deficiency, you might benefit from genetic counseling. What is genetic counseling? If you have AADC deficiency, genetic ... Read more

July 1, 2020July 1, 2020

What Is Genetic Testing and How Can It Help Diagnose AADC Deficiency?

AADC News

Genetic testing looks for changes in the genome — an organism’s complete set of DNA — that might indicate the presence of a genetic disease such as aromatic L-amino acid ... Read more

June 24, 2020June 24, 2020

Reproductive Options for AADC Deficiency Carriers

AADC News

If you know you are a carrier for aromatic L-amino acid decarboxylase (AADC) deficiency, you may have already spoken to a genetic counselor about your risks of passing the disease on ... Read more

June 17, 2020June 17, 2020

Will Another Child of Mine Have AADC Deficiency?

AADC News

If you have a child with aromatic L-amino acid decarboxylase (AADC) deficiency, you may be worried about the risk of additional children you might have also inheriting the disease. How ... Read more

June 16, 2020June 17, 2020

4 Cerebrospinal Fluid Biomarkers May Aid Diagnosis, Study Says

AADC News

Four biomarkers of aromatic l-amino acid decarboxylase (AADC) deficiency have been identified in the cerebrospinal fluid of children with the condition, a new study reports. These disease markers may aid ... Read more

June 10, 2020June 10, 2020

What is the iNTD and Its Patient Registry?

AADC News

If your child has aromatic l-amino acid decarboxylase (AADC) deficiency, you may want to consider participating in the patient registry of the International Working Group on Neurotransmitter Related Disorders (iNTD). ... Read more

June 3, 2020June 4, 2020

Newborn Screening and AADC Deficiency

AADC News

Newborn screening for aromatic L-amino acid decarboxylase (AADC) deficiency has been studied, but has not yet been not been implemented. This is due partly to a lack of availability and ... Read more

June 2, 2020June 3, 2020

Study Characterizes Largest Group of AADC Deficiency Patients in Mainland China

AADC News

The genetic variant that most commonly causes aromatic l-amino acid decarboxylase (AADC) deficiency seems to result in severe clinical manifestations, according to findings from the largest patient group from mainland China. ... Read more