Author Archives: Brian Murphy, Ph.D.

Intensive Care for AADC Deficiency

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…

AADC Deficiency and Scoliosis

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…

AADC Deficiency and Infections

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…

Neuropsychological Treatment of AADC Deficiency Patients

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…

Becoming Teens and Adults With AADC Deficiency

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 …

AADC Deficiency and Ethnicity

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…