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Mucolipidosis

Disease MucolipidosesMucopolysaccharides

Mucolipidosis I: A type of mucolipidosis (see below) characterized by deficiency of the enzyme neuraminidase (sialidase). There are two forms of the disease.

 


Mucolipidosis IV Causes, Symptoms and Treatment and Related Disorders ...

Mucolipidosis IV
National Organization for Rare Disorders, Inc.
Synonyms ...

Mucolipidosis Type II
Medical Dictionary
Definition of medical terminology for Mucolipidosis Type II.

What is mucolipidosis type IV?
Mucolipidosis type IV is an inherited disorder characterized by delayed development and progressive vision loss.

[Mucolipidosis Type I. Sialidosis Due…
By Maroteaux P, Poissonnier M, Tondeur M, Strecker G, Lemonnier M
Related Articles [Mucolipidosis type I. Sialidosis due to alpha-2-6-neuraminidase deficiency… more… ...

Mucolipidosis type IV
Clinical: Ketoconazole (ketoconazole)
Clinical: Nizoral (ketoconazole)
Clinical: Cantil (mepenzolate bromide) ...

Mucolipidosis
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892 ...

See: mucolipidosis.
Synonyms: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis.

Mucolipidosis II
Mucolipidosis III
Mucolipidosis IV
mucolopidosis type I
mucopolysaccharide storage disease type III
Mucopolysaccharidoses
Mucopolysaccharidosis IV
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type II ...

Mucolipidosis III ... stiff joints
Mucolipidosis type 3 A ... joint stiffness
Mucopolysaccharidosis II ... joint stiffness
Mucopolysaccharidosis type 2 Hunter syndrome- mild form ... joint deformities ...

Neuraminidase deficiency, sometimes labeled sialidosis, or mucolipidosis, is one of numerous hereditary lysosomal storage disorders. Lysosomes are small organelles within cells in which important metabolic reactions take place.

Lipidoses; Chemically induced lipidosis; Disease: Andersons, Fabrys, Gauchers, I Cell [Mucolipidosis I], Lipoid Storage NOS, Niemann-Pick, Pseudo-Hurlers or Mucolipidosis III, Triglyceride Storage, Type I or II, Wolmans or Triglyceride Storage, ...

A symptom of rare diseases such as mucolipidosis (type IV).
A symptom of Helicobacter pylori infection which neutralizes and decreases secretion of gastric acid to aid its survival in the stomach.

‡For Ashkenazi Jews, some experts also recommend screening for Gaucher's disease, Niemann-Pick disease type A, Fanconi syndrome group C, Bloom syndrome, and mucolipidosis IV.

Mucolipidosis IV Opens New Window. This problem causes the nervous system to deteriorate, or break down, over time.
Niemann-Pick disease Opens New Window (type A).

In addition to multiple sulfatase deficiency, the differential diagnosis should also include other forms of MPS (MPS 1, 2, 4A, 7), sialidosis and mucolipidosis (see these terms).

Interestingly, other mutations in GNPTAB and GNPTG are tied to two serious metabolic disorders, called mucolipidosis (ML) II and III, which are also caused by problems with cellular recycling.

Mucolipidosis Type IV is a rare autosomal recessive disease with a carrier rate of about one in 120 among Ashkenazi Jews. It is a progressive neurological disorder with symptoms beginning in the first year of life.

See also: Symptom, Cancer, Stroke, Asthma, Deficiency

Disease MucolipidosesMucopolysaccharides

 
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