Paula and Bobby
Parents of Lillie
Aromatic L-Amino Acid Decarboxylase Deficiency
What is Aromatic L-Amino Acid Decarboxylase Deficiency?
Aromatic L-Amino Acid Decarboxylase Deficiency is a rare disease. It is also known as Aadc Deficiency Ddc Deficiency Dopa Decarboxylase Deficiency.
* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]
What gene changes cause Aromatic L-Amino Acid Decarboxylase Deficiency?
The syndrome is inherited in the following inheritance pattern/s:
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 608643 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
DDC - 7p12.2-p12.1
What are the main symptoms of Aromatic L-Amino Acid Decarboxylase Deficiency?
The typical symptoms of the syndrome are:
Muscular hypotonia of the trunk, Myoclonus, Miosis, Irritability, Limb dystonia, Limb hypertonia, Babinski sign, Choreoathetosis, Autosomal recessive inheritance, Abnormality of the face, Constipation, Emotional lability, Decreased CSF homovanillic acid, Diarrhea, Feeding difficulties in infancy, Temperature instability, Sleep disturbance, Infantile onset, Ptosis, Global developmental delay, Intermittent hypothermia, Hypotension, Gastroesophageal reflux, Hyperhidrosis, Hyperreflexia
How does someone get tested for Aromatic L-Amino Acid Decarboxylase Deficiency?
The initial testing for Aromatic L-Amino Acid Decarboxylase Deficiency can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
Benefits of FDNA Telehealth
Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
Accuracy & Precision
Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.
Privacy & Security
We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.