Condition Lookup
Sub-Category:
Peroxisomal Disorders
Number of Conditions: 3
Zellweger Syndrome
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Peroxisomal Disorders
Symptoms:
hypotonia; poor feeding; developmental delay; seizures; distinctive facial features; hearing loss; vision impairment; hepatomegaly; jaundice
Root Cause:
Defects in peroxisome biogenesis caused by mutations in PEX genes, leading to the accumulation of long-chain fatty acids and other toxic substances.
How it's Diagnosed: videos
Blood and urine tests for elevated very long-chain fatty acids, molecular genetic testing for PEX gene mutations, imaging studies for brain abnormalities.
Treatment:
Supportive care focusing on symptom management, including physical therapy, nutritional support, and seizure management.
Medications:
There are no specific medications to cure the condition; however, anticonvulsants such as phenobarbital or levetiracetam may be used for seizure control.
Prevalence:
How common the health condition is within a specific population.
Estimated to occur in 1 in 50,000 to 100,000 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Zellweger spectrum disorders, autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Poor; most infants with severe forms do not survive beyond the first year of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Liver dysfunction, severe neurological impairment, vision and hearing loss, failure to thrive, and early mortality.
Refsum Disease
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Peroxisomal Disorders
Symptoms:
retinitis pigmentosa; loss of night vision; peripheral neuropathy; ataxia; scaly skin (ichthyosis); hearing loss; anosmia; cardiac arrhythmias
Root Cause:
Impaired metabolism of phytanic acid due to a mutation in the PHYH gene or PEX7 gene, leading to phytanic acid accumulation.
How it's Diagnosed: videos
Elevated phytanic acid levels in blood plasma, genetic testing for PHYH or PEX7 mutations.
Treatment:
Dietary restriction to avoid phytanic acid (eliminating certain animal fats, dairy products, and fish) and plasmapheresis to reduce phytanic acid levels in severe cases.
Medications:
No direct medications; management includes dietary modifications and vitamin supplementation as needed.
Prevalence:
How common the health condition is within a specific population.
Rare, with an estimated incidence of 1 in 1,000,000 globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal recessive inheritance; family history of the condition.
Prognosis:
The expected outcome or course of the condition over time.
Variable; with early dietary management, many individuals can maintain a good quality of life, although vision and neurological impairments may progress.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Vision loss, neuropathy, cardiac arrhythmias, and progressive disability if untreated.
Adrenoleukodystrophy (ALD)
Specialty: Genetics
Category: Metabolic and Storage Disorders
Sub-category: Peroxisomal Disorders
Symptoms:
progressive weakness; behavioral changes; spasticity; vision and hearing loss; adrenal insufficiency (addison's disease); seizures
Root Cause:
Mutation in the ABCD1 gene, leading to the accumulation of very long-chain fatty acids (VLCFAs) in the brain, spinal cord, and adrenal glands.
How it's Diagnosed: videos
Elevated VLCFAs in blood plasma, genetic testing for ABCD1 mutations, MRI to detect white matter abnormalities in the brain.
Treatment:
Allogeneic hematopoietic stem cell transplantation (HSCT) in early stages for cerebral ALD; adrenal hormone replacement therapy for adrenal insufficiency.
Medications:
Hydrocortisone or fludrocortisone for adrenal insufficiency; experimental therapies such as gene therapy may also be considered.
Prevalence:
How common the health condition is within a specific population.
Estimated to affect 1 in 20,000 to 50,000 people, primarily males (X-linked disorder).
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of ALD, being male (X-linked inheritance).
Prognosis:
The expected outcome or course of the condition over time.
Without treatment, cerebral ALD leads to progressive neurological decline and early death. Early intervention can improve outcomes, particularly in milder forms.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe neurological disability, adrenal crisis, blindness, and death in severe cases.