Mucolipidoses Information Page

Mucolipidoses Information Page


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What research is being done?

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Investigators are conducting studies to determine the effects of ML genetic mutations in various animal models of the disease.  Studying the disease mechanisms in these models may allow scientists to develop treatments for people with an ML disorder.Clinical trials include a natural history of individuals with ML IV, to better understand the disease and identify potential outcomes, and longitudinal studies to better understand disease progression, assess current therapies, and identify potential treatments.

Information from the National Library of Medicine’s MedlinePlus
Metabolic Disorders

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What research is being done?

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Investigators are conducting studies to determine the effects of ML genetic mutations in various animal models of the disease.  Studying the disease mechanisms in these models may allow scientists to develop treatments for people with an ML disorder.Clinical trials include a natural history of individuals with ML IV, to better understand the disease and identify potential outcomes, and longitudinal studies to better understand disease progression, assess current therapies, and identify potential treatments.

Information from the National Library of Medicine’s MedlinePlus
Metabolic Disorders

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Investigators are conducting studies to determine the effects of ML genetic mutations in various animal models of the disease.  Studying the disease mechanisms in these models may allow scientists to develop treatments for people with an ML disorder.Clinical trials include a natural history of individuals with ML IV, to better understand the disease and identify potential outcomes, and longitudinal studies to better understand disease progression, assess current therapies, and identify potential treatments.

Information from the National Library of Medicine’s MedlinePlus
Metabolic Disorders


Definition
Definition
Treatment
Treatment
Prognosis
Prognosis
Clinical Trials
Clinical Trials
Organizations
Organizations
Publications
Publications
Definition
Definition

The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe intellectual impairment and skeletal deformities.

The group includes four diseases:

  • Mucolipidosis I (sialidosis)
  • Mucolipidosis II (inclusion-cell, or I-cell, disease)
  • Mucolipidosis III (pseudo-Hurler polydystrophy)
  • Mucolipidosis IV

The MLs are classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells. Individuals with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, lysosomes cannot break down carbohydrates and lipids and transport them to their normal destination. The molecules then accumulate in the cells of various tissues in the body, leading to swelling and damage of organs.

The mucolipidoses occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs.

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Definition

The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe intellectual impairment and skeletal deformities.

The group includes four diseases:

  • Mucolipidosis I (sialidosis)
  • Mucolipidosis II (inclusion-cell, or I-cell, disease)
  • Mucolipidosis III (pseudo-Hurler polydystrophy)
  • Mucolipidosis IV

The MLs are classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells. Individuals with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, lysosomes cannot break down carbohydrates and lipids and transport them to their normal destination. The molecules then accumulate in the cells of various tissues in the body, leading to swelling and damage of organs.

The mucolipidoses occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs.

Treatment
Treatment

No cures or specific therapies for ML currently exists.  Therapies are generally geared toward treating symptoms and providing supportive care to the child.  For individuals with corneal clouding, surgery to remove the thin layer over the eye has been shown to reduce the cloudiness in the eye.  However, this improvement may be only temporary.   Physical and occupational therapy may help children with motor delays.  Children with language delays may benefit from speech therapy.    Children at risk for failure to thrive (growth failure) may need nutritional supplements, especially iron and vitamin B12 for persons with ML IV.  Respiratory infections should be treated immediately and fully with antibiotics.

×
Treatment

No cures or specific therapies for ML currently exists.  Therapies are generally geared toward treating symptoms and providing supportive care to the child.  For individuals with corneal clouding, surgery to remove the thin layer over the eye has been shown to reduce the cloudiness in the eye.  However, this improvement may be only temporary.   Physical and occupational therapy may help children with motor delays.  Children with language delays may benefit from speech therapy.    Children at risk for failure to thrive (growth failure) may need nutritional supplements, especially iron and vitamin B12 for persons with ML IV.  Respiratory infections should be treated immediately and fully with antibiotics.

Definition
Definition

The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe intellectual impairment and skeletal deformities.

The group includes four diseases:

  • Mucolipidosis I (sialidosis)
  • Mucolipidosis II (inclusion-cell, or I-cell, disease)
  • Mucolipidosis III (pseudo-Hurler polydystrophy)
  • Mucolipidosis IV

The MLs are classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells. Individuals with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, lysosomes cannot break down carbohydrates and lipids and transport them to their normal destination. The molecules then accumulate in the cells of various tissues in the body, leading to swelling and damage of organs.

The mucolipidoses occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs.

Treatment
Treatment

No cures or specific therapies for ML currently exists.  Therapies are generally geared toward treating symptoms and providing supportive care to the child.  For individuals with corneal clouding, surgery to remove the thin layer over the eye has been shown to reduce the cloudiness in the eye.  However, this improvement may be only temporary.   Physical and occupational therapy may help children with motor delays.  Children with language delays may benefit from speech therapy.    Children at risk for failure to thrive (growth failure) may need nutritional supplements, especially iron and vitamin B12 for persons with ML IV.  Respiratory infections should be treated immediately and fully with antibiotics.

Prognosis
Prognosis

Symptoms of ML can be congenital (present at birth) or begin in early childhood or adolescence. Early symptoms can include skeletal abnormalities, vision problems and developmental delays. Over time, many children with ML develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease.

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Symptoms of ML can be congenital (present at birth) or begin in early childhood or adolescence. Early symptoms can include skeletal abnormalities, vision problems and developmental delays. Over time, many children with ML develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease.

Prognosis
Prognosis

Symptoms of ML can be congenital (present at birth) or begin in early childhood or adolescence. Early symptoms can include skeletal abnormalities, vision problems and developmental delays. Over time, many children with ML develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease.

Definition

The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe intellectual impairment and skeletal deformities.

The group includes four diseases:

  • Mucolipidosis I (sialidosis)
  • Mucolipidosis II (inclusion-cell, or I-cell, disease)
  • Mucolipidosis III (pseudo-Hurler polydystrophy)
  • Mucolipidosis IV

The MLs are classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells. Individuals with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, lysosomes cannot break down carbohydrates and lipids and transport them to their normal destination. The molecules then accumulate in the cells of various tissues in the body, leading to swelling and damage of organs.

The mucolipidoses occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs.

Treatment

No cures or specific therapies for ML currently exists.  Therapies are generally geared toward treating symptoms and providing supportive care to the child.  For individuals with corneal clouding, surgery to remove the thin layer over the eye has been shown to reduce the cloudiness in the eye.  However, this improvement may be only temporary.   Physical and occupational therapy may help children with motor delays.  Children with language delays may benefit from speech therapy.    Children at risk for failure to thrive (growth failure) may need nutritional supplements, especially iron and vitamin B12 for persons with ML IV.  Respiratory infections should be treated immediately and fully with antibiotics.

Prognosis

Symptoms of ML can be congenital (present at birth) or begin in early childhood or adolescence. Early symptoms can include skeletal abnormalities, vision problems and developmental delays. Over time, many children with ML develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease.

What research is being done?

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Investigators are conducting studies to determine the effects of ML genetic mutations in various animal models of the disease.  Studying the disease mechanisms in these models may allow scientists to develop treatments for people with an ML disorder.Clinical trials include a natural history of individuals with ML IV, to better understand the disease and identify potential outcomes, and longitudinal studies to better understand disease progression, assess current therapies, and identify potential treatments.

Information from the National Library of Medicine’s MedlinePlus
Metabolic Disorders

Patient Organizations
Genetic Alliance
4301 Connecticut Avenue, N.W.
Suite 404
Washington
DC
Washington, DC 20008-2369
Tel: 202-966-5557; 800-336-GENE (4363)
ISMRD-International Advocate For Glycoprotein Storage Diseases
20880 Canyon View Drive
Saratoga
CA
Saratoga, CA 95070
Tel: 734-449-1190
Mucolipidosis IV (ML4) Foundation
3500 Piedmont Road, Suite 500
Atlanta
GA
Atlanta, GA 30305
Tel: 877-ML4-5459 (654-5459)
National MPS Society, Inc.
PO Box 14686
Durham
NC
Durham, NC 27709-4686
Tel: 877-MPS-1001; 919-806-0101
National Society of Genetic Counselors
401 N. Michigan Avenue
Chicago
IL
Chicago, IL 60611
Tel: 312-321-6834
National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston
MA
Boston, MA 02135
Tel: 800-90-NTSAD (906-8723)
Publications