Rare Nephrology News

Disease Profile

Refsum disease, infantile form

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

All ages

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ICD-10

G60.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

Categories

Congenital and Genetic Diseases; Digestive Diseases; Eye diseases;

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]

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.

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
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
Involuntary, rapid, rhythmic eye movements
0000639
Sensorineural hearing impairment
0000407
Spasticity
Involuntary muscle stiffness, contraction, or spasm
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
Disease of the heart muscle
0001638
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Facial palsy
Bell's palsy
0010628
Ichthyosis
0008064
Optic atrophy
0000648
Seizure
0001250
Percent of people who have these symptoms is not available through HPO
Abnormal bleeding
Bleeding tendency
0001892
Abnormal electroretinogram
0000512
Autosomal recessive inheritance
0000007
Congenital onset
Symptoms present at birth
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
Decreased reflex response
Decreased reflexes

[ more ]

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
Fat in feces
0002570

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

    Organizations Providing General Support

      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.

        References

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