Refsum disease, infantile form

Title

Other Names:

Infantile Refsum disease; IRD; Infantile form of phytanic acid storage disease

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Eye diseases; Congenital and Genetic Diseases; Digestive Diseases; Eye diseases; Metabolic disorders; Nervous System Diseases See More

Summary Summary

Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements.^[1]^[2] Peroxisome biogenesis disorders, in turn, are part of a larger group of disorders called leukodystrophies.^[2] IRD can cause low muscle tone (hypotonia), retinitis pigmentosa (a visual impairment that can lead to blindness), developmental delay, sensorineural hearing loss, and liver dysfunction. IRD usually presents at birth or in infancy. Most individuals with IRD can achieve motor milestones, though they may be delayed, and most individuals can communicate with a few words or signs. Leukodystrophy with loss of acquired skills can occur at any age and may stabilize or progress. Peroxisome biogenesis disorders are caused by mutations in one of the PEX genes and are inherited in an autosomal recessive manner. Life expectancy, medical complications, and the degree of neurological impairment can vary. Survival into adulthood is possible.^[1] Adult Refsum disease and infantile refsum disease are separate disorders caused by different genetic defects.^[2]

Last updated: 5/20/2015

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Constriction of peripheral visual field	Limited peripheral vision	0001133
Elevated levels of phytanic acid		0010571
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Global developmental delay		0001263
Hepatomegaly	Enlarged liver	0002240
Nyctalopia	Night blindness Night-blindness Poor night vision [ more ]	0000662
Progressive muscle weakness		0003323
Rod-cone dystrophy		0000510
Short stature	Decreased body height Small stature [ more ]	0004322
Very long chain fatty acid accumulation		0008167
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
30%-79% of people have these symptoms
Ataxia		0001251
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Muscular hypotonia	Low or weak muscle tone	0001252
Nystagmus		0000639
Sensorineural hearing impairment		0000407
Spasticity		0001257
5%-29% of people have these symptoms
Abnormality of epiphysis morphology	Abnormal shape of end part of bone	0005930
Arrhythmia	Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ]	0011675
Cardiomyopathy		0001638
Cataract	Cloudy lens	0000518
Facial palsy	Bell's palsy	0010628
Ichthyosis		0008064
Optic atrophy		0000648
Seizures	Seizure	0001250
Percent of people who have these symptoms is not available through HPO
Abnormal bleeding	Bleeding tendency	0001892
Abnormal electroretinogram		0000512
Abnormal facial shape	Unusual facial appearance	0001999
Autosomal recessive inheritance		0000007
Congenital onset		0003577
Depressed nasal ridge	Flat nose Recessed nasal ridge [ more ]	0000457
Flat face	Flat facial shape	0012368
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hypocholesterolemia	Decreased circulating cholesterol level	0003146
Hyporeflexia		0001265
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Malar flattening	Zygomatic flattening	0000272
Osteoporosis		0000939
Polyneuropathy	Peripheral nerve disease	0001271
Single transverse palmar crease		0000954
Steatorrhea		0002570

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 6/1/2018

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Global Foundation for Peroxisomal Disorders
5147 South Harvard Avenue
Suite 181
Tulsa, OK 74135
Telephone: 347-470-4373
Fax: 918-516-0227
E-mail: contactus@thegfpd.org
Website: http://www.thegfpd.org
United Leukodystrophy Foundation (ULF)
224 North Second Street
Suite 2
DeKalb, IL 60115
Toll-free: 800-728-5483
Telephone: 815-748-3211
Fax: 815-748-0844
E-mail: office@ulf.org
Website: http://www.ulf.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Refsum disease, infantile form. Click on the link to view a sample search on this topic.

Related Diseases Related Diseases

The following diseases are related to Refsum disease, infantile form. If you have a question about any of these diseases, you can contact GARD.

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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

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References References

Nancy Braverman. Infantile Refsum disease. Orphanet. December 2012; http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=772. Accessed 5/20/2015.
NINDS Infantile Refsum Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). September 27, 2011; http://www.ninds.nih.gov/disorders/refsum_infantile/refsum_infantile.htm. Accessed 5/20/2015.

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