Mucolipidosis type 4

Title

Other Names:

ML 4; Berman syndrome; Ganglioside neuraminidase deficiency; ML 4; Berman syndrome; Ganglioside neuraminidase deficiency; Ganglioside sialidase deficiency; Mucolipidosis type IV See More

Categories:

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

Summary Summary

Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay by the end of the first year of life and visual impairment that worsens over time. Other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. Approximately 5% of affected people have a mild form of the condition (known as atypical mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. Mucolipidosis type 4 is caused by changes (mutations) in the MCOLN1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.^[1]^[2]^[3]

Last updated: 1/21/2016

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
Abnormality of mucopolysaccharide metabolism		0011020
Absent speech	Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ]	0001344
Aplasia/Hypoplasia of the abdominal wall musculature	Absent/small abdominal wall muscles Absent/underdeveloped abdominal wall muscles [ more ]	0010318
Corneal opacity		0007957
Developmental stagnation		0007281
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Ganglioside accumulation		0004345
Hyperreflexia	Increased reflexes	0001347
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Photophobia	Extreme sensitivity of the eyes to light Light hypersensitivity [ more ]	0000613
Retinopathy	Noninflammatory retina disease	0000488
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
30%-79% of people have these symptoms
Ataxia		0001251
EEG abnormality		0002353
Muscular hypotonia	Low or weak muscle tone	0001252
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
5%-29% of people have these symptoms
Abnormal electroretinogram		0000512
Abnormal nasal morphology	Abnormal of nasal shape Abnormal of shape of nose [ more ]	0005105
Abnormality of retinal pigmentation		0007703
Biparietal narrowing		0004422
Coarse facial features	Coarse facial appearance	0000280
Everted lower lip vermilion	Drooping lower lip Outward turned lower lip [ more ]	0000232
Genu recurvatum	Back knee Knee hyperextension [ more ]	0002816
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Microdontia	Decreased width of tooth	0000691
Palmoplantar keratoderma	Thickening of palms and soles	0000982
Percent of people who have these symptoms is not available through HPO
Abnormality of abdomen morphology		0001438
Achlorhydria		0032448
Autosomal recessive inheritance		0000007
Babinski sign		0003487
Cerebellar atrophy	Degeneration of cerebellum	0001272
Cerebral dysmyelination		0007266
Decreased light- and dark-adapted electroretinogram amplitude		0000654
Dysplastic corpus callosum		0006989
Dystonia		0001332
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
Hypergastrinemia	Elevated gastrin in the blood Increased blood gastrin [ more ]	0500167
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Opacification of the corneal stroma		0007759
Optic atrophy		0000648
Progressive neurologic deterioration	Worsening neurological symptoms	0002344
Retinal degeneration	Retina degeneration	0000546
Spastic tetraplegia		0002510
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505

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

Last updated: 1/1/2020

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Mucolipidosis type 4. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

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

Alex The Leukodystrophy Charity (Alex TLC)
45 Peckham High Street
London, SE15 5EB United Kingdom
Telephone: 020 7701 4388
E-mail: info@alextlc.org
Website: https://www.alextlc.org
Mucolipidosis Type IV Foundation, Inc.
3500 Piedmont Road
Suite 500
Atlanta, GA 30305
Toll-free: (877) ML4-5459 (654-5459)
E-mail: info@ml4.org
Website: http://www.ml4.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.

Where to Start

Genetics Home Reference (GHR) contains information on Mucolipidosis type 4. This website is maintained by the National Library of Medicine.
The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
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 Mucolipidosis type 4. Click on the link to view a sample search on this topic.

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References References

Mucolipidosis type IV. Genetics Home Reference. August 2013; http://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv.
Raphael Schiffmann, MD, MHSc, Yulia Grishchuk, PhD, and Ehud Goldin, PhD. Mucolipidosis IV. GeneReviews. July 2015; http://www.ncbi.nlm.nih.gov/books/NBK1214/.
Mucolipidoses Fact Sheet. National Institute of Neurological Disorders and Stroke. June 2015; http://www.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidoses.htm.

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