Adrenoleukodystrophy Multidisciplinary Clinic

Adrenoleukodystrophy (ALD) is an inherited disorder that causes neurological difficulties and affects the adrenal glands. It can be inherited from one or both parents, and usually affects males more severely than females. ALD damages the membrane surrounding nerve cells in the brain and the spinal cord. When this membrane—called the myelin sheath—is damaged, nerve signals can’t be transmitted throughout the body properly, leading to impaired movement or paralysis.  The adrenal glands are also damaged leading to decreased hormonal function.  Symptoms can appear during childhood or as an adult. Symptoms can vary in severity, and some patients may have no symptoms.

The most common form of ALD is caused by a genetic defect in the X chromosome. The mutation in this chromosome (Xp28), prevents the body from breaking down very long-chain fatty acids (VLCFAs). The accumulation of these VLCFAs can progressively damage the brain and adrenal glands. As VLCFAs build up, they cause inflammation, damaging the myelin sheath and affecting the central nervous system, the adrenal gland, and the testes.

ALD occurs in about one in 20,000 males. Since 2013, the New York State Newborn Screening Program has been screening for this disorder. With the institution of newborn screening programs in more states, there is a growing need for pre-symptomatic boys to receive ongoing monitoring for the development of symptoms such as the childhood cerebral form of ALD and adrenal insufficiency. Screening every 6 to 12 months is important to detect early neurological disease progression. A brain MRI can establish the need for treatment, such as bone marrow transplantation. It is also important to diagnose adrenal insufficiency before development of symptoms or life-threatening adrenal crisis.

Why Choose Us

Patients with rare and complex diseases such as ALD often receive fragmented care. Coordinating medical care from multiple specialists can be time-consuming and worrisome for parents or caregivers. That’s why the pediatric endocrinology and diabetes team has established a multidisciplinary clinic to care for children with ALD. We use a team approach that combines the insights of a pediatric endocrinologist, neurologist, geneticist, and genetic counselor with support from social work, nutrition, and physical therapy services. Communication between all members of the team is also coordinated and seamless.

Care between neurology and endocrinology is coordinated as necessary, especially when scheduling procedures such as an MRI brain scan, which may require steroid therapy if adrenal function is compromised or uncertain. Endocrine therapy needs to be in coordination with other disciplines so that the patient will be in best condition leading up to stem cell transplant or gene therapy. Our goal is to ensure the best outcome for our patients, promote well-being, and reduce disruptions in their family life.