Peroxisomal disorders are a heterogeneous group of inborn errors of metabolism that result in impairment of peroxisome function. In most cases, this results in neurologic dysfunction of varying extent.

Peroxisomal disorders are a group of hereditary metabolic disorders that occur when peroxisomes are missing or do not function correctly in the body. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. Peroxisomes are tiny components within cells.

Definition. Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy). Due to a genetic abnormality, people with ARD disease lack the enzyme in peroxisomes that break down phytanic acid, a type of fat found in certain foods.

Individuals with Refsum disease are usually normal at birth, but between the ages of 10 and 20 years old, symptoms begin to develop starting with loss of night vision (retinitis pigmentosa), and eventually including weakness in arms and legs or unsteadiness (cerebellar ataxia).

Patients with Refsum disease are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase (PhyH), a peroxisomal enzyme catalyzing the first step of phytanic acid alpha-oxidation.

Types of Lysosomal Storage Diseases?

• Gaucher disease.
• Niemann-Pick disease.
• Fabry disease.
• Tay-Sachs disease.
• Mucopolysaccharidoses (MPS) diseases.
• Pompe disease.

ALD is an X-linked recessive condition caused by a mutation in the ABCD1 gene on the X chromosome. Because a female has two X chromosomes, if she inherits the faulty gene, then she still has another X chromosome to offset the mutation.

Adrenoleukodystrophy, or ALD, is a deadly genetic disease that affects 1 in 17,000 people. It is an X-linked genetic disease, therefore it mostly affects boys and men. ALD involves multiple organs in the body so it most prominently affects the brain and spinal cord. This brain disorder destroys myelin.

The three major categories of ALD are childhood cerebral ALD, adrenomyelopathy, and Addison’s disease. The gene that causes ALD was identified in 1993. According to the Oncofertility Consortium, ALD occurs in about 1 in 20,000 to 50,000 people and mainly affects men.

The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of X-ALD.

Based on the age of onset and severity of its symptoms, ALD is classified into three main types: childhood cerebral adrenoleukodystrophy (CALD), adrenomyeloneuropathy (AMN), and Addison’s disease.

Lorenzo’s oil is still an experimental treatment, and 50 to 60 people are currently taking it, said Dr. Gerald Raymond, who, after Moser’s death, directed the Neurogenetics Research Center at Kennedy Krieger for three years before moving to the University of Minnesota.

ALD causes severe damage to your nervous system. It does this by breaking apart the fatty covering (called myelin) that protects nerves in your brain and spinal cord. This makes it harder for nerves to send messages to your brain.

Adrenoleukodystrophy has no cure. However, stem cell transplantation may stop the progression of ALD if done when neurological symptoms first appear. Doctors will focus on relieving your symptoms and slowing disease progression.