Author Archives: Brian Murphy, Ph.D.

If you have a child with aromatic l-amino acid decarboxylase (AADC) deficiency, they may be at an increased risk of needing intensive medical care. Here is more information about what intensive care involves, why your child may need it, and how doctors manage it. What is AADC deficiency? AADC…

The International Working Group on Neurotransmitter Related Disorders, known as iNTD, is an organization that seeks to raise awareness and improve the treatment of rare neurological conditions, including aromatic l-amino acid decarboxylase (AADC) deficiency. Here is more information about the iNTD. You can learn about its goals, and…

Children with aromatic l-amino acid decarboxylase (AADC) deficiency can, over time, develop scoliosis. This spinal curvature, along with other bone deformities, may be a consequence of ongoing muscle weakness and repeated oculogyric crises — spasms of the eye muscles, which sometimes occur during seizures. Here is more information about…

Various tests, particularly blood tests, are normally requested if a doctor suspects your child may have aromatic l-amino acid decarboxylase (AADC) deficiency. An initial test might look at blood levels of 3-O-methyldopa (3-OMD). If those levels are high, a test to determine levels of AADC enzyme activity in the…

Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare disease with a range of symptoms, often first evident very early in life. Because hypotonia (floppiness) and movement disorders are among its most common symptoms, patients with AADC deficiency can be at an increased risk of infection. Here is information…

Children with aromatic l-amino acid decarboxylase (AADC) deficiency may experience a number of emotional and cognitive difficulties in addition to the motor symptoms caused by this genetic and neurometabolic disease. Neuropsychological treatment and support may be able to prevent complications and promote development. What is neuropsychological treatment? Neuropsychological treatment involves…

Paramedical treatment is an important aspect in the care of many chronic diseases, including aromatic l-amino acid decarboxylase (AADC) deficiency. Here is a look at some of the different areas of paramedical treatment, which may help in managing your child’s symptoms and improving their quality of life. What is…

Children with aromatic l-amino acid decarboxylase (AADC) deficiency can live to be teenagers and adults, a transition that may lead to changes in disease symptoms and their severity. Care given to these patients may need to be adjusted accordingly as they age. Changes in symptoms with age An international …

Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare disease caused by mutations in the gene that encodes for the AADC protein. The disease seems to be more common in some parts of the world, and people of certain ethnicity may be at higher risk for the…

While aromatic l-amino acid decarboxylase (AADC) deficiency primarily affects the nervous system, it also can impact several other systems in the body. Thus, your child will need to see a multidisciplinary treatment team in addition to a primary care physician to make sure that he or she receives the…