AADC News

October 22, 2020October 22, 2020

Prevalence of AADC Deficiency

AADC News

Researchers don’t know the exact prevalence (how common a disease is among a population) of aromatic l-amino acid decarboxylase (AADC) deficiency. However, they have conducted several studies in an attempt ... Read more

October 15, 2020October 15, 2020

AADC Deficiency Awareness Day Event Taking Place Oct. 23 on Facebook Live

AADC News

Massachusetts is holding its first-ever AADC Deficiency Awareness Day on Oct. 23, according to a press release from PTC Therapeutics, developer of a gene therapy for aromatic l-amino acid decarboxylase ... Read more

October 14, 2020October 14, 2020

My Child Has Been Diagnosed With AADC Deficiency, Now What?

AADC News

As a parent, finding out that your child has a rare genetic disorder like aromatic L-amino acid decarboxylase (AADC) deficiency can be overwhelming. Here are a few frequently asked questions, with ... Read more

October 8, 2020October 8, 2020

Family Help for AADC Deficiency

AADC News

Taking care of a child with aromatic l-amino acid decarboxylase (AADC) deficiency can be overwhelming for parents or caregivers. But there are some ways you, as a family member, can ... Read more

September 30, 2020September 30, 2020

Common Misdiagnoses of AADC Deficiency

AADC News

Only about 100 cases of aromatic l-amino acid decarboxylase (AADC) deficiency are reported in scientific literature globally. This is partly because some individuals are wrongly diagnosed with cerebral palsy or other neurological ... Read more

September 23, 2020September 23, 2020

Raising Awareness of AADC Deficiency

AADC News

Having a child with is a rare genetic disorder like aromatic L-amino acid decarboxylase (AADC) deficiency is life-altering. As with most diseases, early diagnosis and treatment usually lead to better outcomes. ... Read more

September 17, 2020September 17, 2020

PTC, Invitae Launch Free Genetic Testing to Improve AADC, Other Diagnoses

AADC News

PTC Therapeutics and Invitae have partnered to launch a free genetic testing program that helps diagnose neurotransmitter disorders, including aromatic l-amino acid decarboxylase (AADC) deficiency, in people who are suspected ... Read more

September 16, 2020September 16, 2020

Mood Disorders in AADC Deficiency

AADC News

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that involves a decrease in several neurotransmitters — chemicals that send messages to and from nerve cells — such ... Read more

September 9, 2020September 9, 2020

Seizure Monitors for AADC Deficiency

AADC News

People with aromatic l-amino acid decarboxylase (AADC) deficiency, whose symptoms usually begin during infancy, sometimes experience seizures. Seizure monitors can help alert family members and caregivers that a seizure is occurring, ... Read more

August 26, 2020August 26, 2020

Seizure Diaries for AADC Deficiency

AADC News

Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that causes communication problems between nerve cells in the brain and the body. As a result, patients with the ... Read more

August 19, 2020August 19, 2020

All You Need to Know About Vitamin B6 and AADC Deficiency

AADC News

Doctors often recommend vitamin B6 (pyridoxine) as a treatment for aromatic L-amino acid decarboxylase (AADC) deficiency. Here are some frequently asked questions and answers about vitamin B6 treatment. What is ... Read more

August 12, 2020August 12, 2020

How to Prepare for a Lumbar Puncture in AADC Deficiency

AADC News

If your child’s doctor suspects aromatic L-amino acid decarboxylase (AADC) deficiency, they may recommend a lumbar puncture (also called a spinal tap) to help diagnose the disease. Here is what to ... Read more

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