There are a number of resources that can help with the diagnosis of Aromatic L-amino Acid Decarboxylase (AADC) deficiency
Select a topic to view resources
What is Aromatic L-amino Acid Decarboxylase (AADC) deficiency?
Phillip Pearl, MD, and Keith Hyland, PhD, give an overview of AADC deficiency
What are common misdiagnoses of Aromatic L-amino Acid Decarboxylase (AADC) deficiency?
Keith Hyland, PhD, details common misdiagnoses of AADC deficiency and explains what physicians should look for to differentiate AADC deficiency from other conditions
How does AADC deficiency impact patients and their families?
Warren A. Marks, MD, explains how children and their families are impacted by AADC deficiency
What do you hope for patients and families impacted by AADC deficiency?
Warren A. Marks, MD, discusses what he hopes the future holds and how children and their families are impacted by AADC deficiency
“Aromatic amino acid decarboxylase deficiency: molecular and metabolic basis and therapeutic outlook”
This paper, published in the journal of Molecular Genetics and Metabolism, outlines hallmark symptoms of AADC deficiency and also discusses recommended diagnostic tests, current strategies for management, and potential new treatment options for AADC deficiency
Could it be AADC deficiency?
This core educational piece offers an in-depth look at AADC deficiency, from its causes and symptoms to diagnostic challenges and genetic testing programs
What are the signs and symptoms of Aromatic L-amino Acid Decarboxylase (AADC) deficiency?
Keith Hyland, PhD, and Phillip Pearl, MD, outline the hallmark signs and symptoms that patients with AADC deficiency may experience
What are oculogyric crises?
Phillip Pearl, MD, describes what oculogyric crises are and the typical characteristics that patients exhibit during an episode
Oculogyric crisis
View an example of an oculogyric crisis
Symptom Guide
This guide contains details about the symptoms of AADC deficiency and recommended tests for diagnosis
How does AADC deficiency differ from cerebral palsy?
This piece details the similar symptoms and how to differentiate between cerebral palsy with unknown etiology and rare genetic disorders like AADC deficiency
Clinical and Biochemical Clues; Diagnosing AADC Deficiency
Paldeep Atwal, MD, FACMG, FRCP (UK), FRCP (Glasg), discusses how AADC deficiency is frequently misdiagnosed and provides information to help identify and diagnose AADC deficiency
What tests are used to help diagnose a patient with Aromatic L-amino Acid Decarboxylase (AADC) deficiency?
Keith Hyland, PhD, reviews diagnostic tests that can confirm an AADC deficiency diagnosis
Why screen for levels of 3-O-methyldopa (3-OMD) in the blood of patients suspected of having Aromatic L-amino Acid Decarboxylase (AADC) deficiency?
Keith Hyland, PhD, explains what 3-O-methyldopa (3-OMD) is and why physicians should screen for it in patients who may have AADC deficiency
What are the benefits of genetic testing for patients?
Keith Hyland, PhD, discusses how genetic testing can play a role in understanding the molecular basis of AADC deficiency and the implications for disease inheritance and severity
What does the diagnostic journey of AADC deficiency look like?
Timothy John Feyma, MD, describes what the typical journey to diagnosis looks like for most patients and their families
Why is it important to diagnose AADC deficiency early?
Timothy John Feyma, MD, Nastassja Himmelreich, PhD, Keith Hyland, PhD, and Warren A. Marks, MD, explain the importance of arriving at an accurate diagnosis of AADC deficiency early
What should HCPs look for to get to a differential diagnosis?
Thomas Opladen, MD, details how to differentiate AADC deficiency from other conditions
Diagnosis Guide
This guide contains helpful information that can assist in diagnosing AADC deficiency in patients with unexplained symptoms
Neurotransmitter Disorders program flyer
Learn more about this PTC Pinpoint Program that offers testing with the Invitae Neurotransmitter Disorders program
MNG Laboratories, a LabCorp Company
PTC Therapeutics is supporting no-cost AADC deficiency testing through a partnership with MNG Laboratories. MNG Laboratories provides diagnostics through clinical services, complex biochemical and molecular testing, and whole genome and exome sequencing for a range of neurological and mitochondrial disorders
How is AADC deficiency managed currently?
Timothy John Feyma, MD, Bruria Ben Zeev, and Thomas Opladen, MD, describe management options that are available for AADC deficiency
What kind of healthcare providers and services are required for AADC deficiency?
Warren A. Marks, MD, and Timothy John Feyma, MD, detail what a care team may include for a patient with AADC deficiency
“Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency”
This article, written by representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and published in the Orphanet Journal of Rare Diseases, outlines key symptoms as well as recommended strategies for the diagnosis and management of AADC deficiency
AADCAware™
The global AADC deficiency natural history registry enrolls patients with a confirmed diagnosis of AADC deficiency in order to gain natural history data of the disorder. Click below to request more information
The Heger Family’s AADC deficiency story
Watch one family talk about their experience with AADC deficiency and their journey to get a diagnosis for their daughter
AADC Family Network
The AADC Family Network provides research, medical intervention, support, and awareness for patients with AADC deficiency and their families
AADC Research Trust
The AADC Research Trust is dedicated to helping patients with AADC deficiency and their families
The International Working Group on Neurotransmitter Related Disorders
The International Working Group on Neurotransmitter Related Disorders provides valuable information for healthcare professionals, patients, and families
