Health Insights

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…

Providing constant care and supervision to a child with a chronic disease such as aromatic l-amino acid decarboxylase (AADC) deficiency can be mentally, physically, and emotionally draining. A Japanese concept called shoshin might help you change your perspective and see your role in a new light. What is 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…

If your child has a disease as rare as aromatic l-amino acid decarboxylase (AADC) deficiency, you might want to be involved with health advocacy efforts, which generally promote health and access to care. Here is some information about advocacy work, and the ways in which you might participate. What is…

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 …