ABCD1 gene: a gene that encodes a protein that helps the body break down very long-chain fatty acids (VLCFAs)

ADHD: attention-deficit/hyperactivity disorder (ADHD) is a common disorder affecting children and many adults; symptoms include inattention (not being able to stay focused), hyperactivity (moving excessively) and impulsivity (acting without thought)

Adrenal crisis: a medical emergency with low blood pressure, marked by severe abdominal symptoms and laboratory abnormalities that require immediate treatment

Adrenal insufficiency: a medical condition in which the adrenal glands aren’t producing enough of the hormones that are needed to regulate and balance the body

Adrenoleukodystrophy (ALD): a rare, X-linked disease caused by an underlying mutation in the ABCD1 gene

Adrenomyeloneuropathy (AMN): a progressive nervous system disorder that typically affects adults

ALD specialist: someone who specializes in monitoring ALD

Asymptomatic: an individual that exhibits no symptoms associated with a particular condition

Bone marrow transplant (BMT): a treatment that replaces unhealthy bone marrow (stem cells) with healthy bone marrow from a well-matched donor

Cerebral ALD (CALD): the most severe form of ALD, occurring in about 40% of boys. It is characterized by a progressive neurologic decline, which can result in a loss of cognition, vision, hearing, motor function, and eventually life

De novo: ALD that occurs from a spontaneous mutation

Endocrinologist: a physician who specializes in hormonal and metabolic issues

Genetic mutation: a permanent alteration in the DNA sequence of a gene

Geneticist or genetic counselor: an expert who specializes in genetics

Magnetic resonance imaging (MRI): a non-invasive 3-dimensional imaging process used to detect the presence or progression of a disease or condition

Metabolic Disease: a condition that occurs when the metabolism process fails and causes the body to have either too much or too little of the essential substances it needs to stay healthy

Neurologist: a physician who specializes in diagnosing and treating diseases of the brain and nervous system

Neuroradiologist: a doctor who interprets x-rays and magnetic resonance images (MRI) of the brain, spine and spinal region to help diagnose and treat disorders affecting these areas

Newborn screening (NBS): a test that screens newborn babies for certain genetic conditions

Palliative Care: a type of supportive care for someone with an ongoing illness, regardless of stage or prognosis

Phenotype: a description of observable characteristics, including appearance, development and behavior