AADC News

May 27, 2020May 28, 2020

Clinical Trials and AADC Deficiency

AADC News

There have been only about 100 cases of aromatic L-amino acid decarboxylase (AADC) deficiency described in the medical literature. It is very difficult to develop effective treatments when the patient ... Read more

May 26, 2020May 27, 2020

AADC Patients Experience Severe Symptoms from Infancy to Adulthood, Study Reveals

AADC News

Most patients with aromatic l-amino acid decarboxylase (AADC) deficiency experience a combination of severe motor symptoms and prominent non-motor symptoms that persist from childhood to adulthood, according to findings from a recent study. ... Read more

May 20, 2020May 20, 2020

Anesthesia and AADC Deficiency

AADC News

Medical procedures and tests sometimes require anesthesia, which can be especially challenging for patients with aromatic L-amino acid decarboxylase (AADC) deficiency, a rare genetic disease characterized by reduced activity of ... Read more

May 6, 2020May 6, 2020

What’s a Dystonic Crisis with AADC Deficiency, and How to Deal With It?

AADC News

Aromatic l-amino acid decarboxylase (AADC) deficiency is an extremely rare disorder that affects the nervous system. The disease can lead to seizures, muscle weakness, and other symptoms. Having an infection ... Read more

May 5, 2020May 8, 2020

PTC Therapeutics to Seek FDA Approval of AADC Gene Therapy

AADC News, COVID-19 News

PTC Therapeutics is planning to request U.S. Food and Drug Administration (FDA) approval of PTC-AADC, its investigational gene therapy to treat aromatic l-amino acid decarboxylase (AADC) deficiency, the company announced in a corporate update. The request ... Read more

April 28, 2020April 30, 2020

Medications to Avoid in AADC Deficiency

AADC News

Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disease that affects the nervous system. How do doctors treat AADC deficiency? AADC deficiency is very rare, with only about ... Read more

April 21, 2020April 22, 2020

AADC Activity Can Be Assessed with High Resolution FMT-PET, Study Shows

AADC News

Changes in the activity of the enzyme aromatic l-amino acid decarboxylase (AADC) can be assessed through a high-resolution imaging technology called FMT-PET, a new study has confirmed. The study also showed ... Read more

April 20, 2020April 22, 2020

What Equipment Will my Child with AADC Deficiency Need?

AADC News

Children with aromatic l-amino acid decarboxylase (AADC) deficiency may require the help of aids and other special equipment to deal with the challenges posed by the disease. There are a number ... Read more

April 14, 2020April 15, 2020

New Method May Help Diagnose AADC Deficiency, Other Genetic Disorders of Metabolism

AADC News

Measuring multiple metabolites at once in a single drop of cerebrospinal fluid (CSF) may hasten the diagnosis of many rare genetic disorders of metabolism that cause neurological problems, including aromatic ... Read more

April 13, 2020April 15, 2020

Mindfulness for Those Caring for a Patient With AADC Deficiency

AADC News

Providing constant care and supervision for a child with aromatic l-amino acid decarboxylase (AADC) deficiency can be emotionally and physically exhausting. The disease leads to developmental delays, along with symptoms ... Read more

April 6, 2020April 8, 2020

Spoon Theory for AADC Deficiency Caregivers

AADC News

Caring for a loved one with a chronic illness such as aromatic l-amino acid decarboxylase (AADC) deficiency can be stressful and exhausting. Many people may not really understand this, even ... Read more

April 1, 2020April 1, 2020

Importance of Support Networks for People Affected by AADC Deficiency

AADC News

A good support network is important for maintaining your physical and psychological health. Positive support from friends, family, peers, and co-workers can make you more resilient when you experience stress, ... Read more

March 17, 2020March 21, 2020

AADC Deficiency May Be ‘Common’ in Neurological Problems of Unknown Origin

AADC News

Although an ultra rare condition, aromatic L-amino acid decarboxylase (AADC) deficiency appears to be more common among people being tested for neurological problems of unknown origin than thought, with an estimate of ... Read more

March 10, 2020March 22, 2020

Pediatric Rare Disease Therapies Increase, But Most Repurposed, Study Finds

AADC News

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking ... Read more

March 5, 2020March 21, 2020

Video: BioNews’ Social Media Campaign Highlights #WhatMakesMeRare

AADC News

In recognition of Rare Disease Day Feb. 29, BioNews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare ... Read more