Mucolipidosis

mucolipidosesmain mucolipidosis article
Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.wikipedia
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Mucopolysaccharidosis

Mucopolysaccharidosesmucopolysaccharide storage diseaseMucopolysaccharidosis (MPS)
When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses.
Another lysosomal storage disease often confused with the mucopolysaccharidoses is mucolipidosis.

Glycoproteinosis

glycoprotein storage diseasesGlycoprotein storage disorderGlycoproteinoses
However, type I (sialidosis) is now classified as a glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.

Sialidosis

mucolipidosis IMucolipidosis type 1neuraminidase
However, type I (sialidosis) is now classified as a glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.

Mucolipidosis type IV

Mucolipidosis IVmucolipidin 1 deficiencyMucolipidosis type 4
However, type I (sialidosis) is now classified as a glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.
''See the equivalent section in the main mucolipidosis article.

Medical genetics of Jews

Medical genetics of Ashkenazi Jewscommon mutations seen among Ashkenazi Jewscommon to Jewish people
Compared to other ethnic groups, they more frequently act as carriers of mucolipidosis and Niemann–Pick disease, the latter of which can prove fatal.

Heredity

hereditaryinheritedinheritance
Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.

Metabolic disorder

metabolic disordersmetabolic diseasemetabolic diseases
Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.

Cell (biology)

cellcellscellular
Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.

Sphingolipidoses

sphingolipidosisdysfunctional metabolism of sphingolipidssphingolipid diseases
When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses.

Gangliosidosis

gangliosidoses
However, type I (sialidosis) is now classified as a glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.

N-acetylglucosamine-1-phosphate transferase

GNPTABN-acetylglucosamine-1-phosphotransferaseGlcNAc phosphotransferase
Mucolipidosis types II and III (ML II and ML III) result from a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase, which phosphorylates target carbohydrate residues on N-linked glycoproteins.

Phosphorylation

phosphorylatedphosphorylatephosphorylates
Mucolipidosis types II and III (ML II and ML III) result from a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase, which phosphorylates target carbohydrate residues on N-linked glycoproteins.

Glycoprotein

glycoproteinsmembrane glycoproteinprotein
Mucolipidosis types II and III (ML II and ML III) result from a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase, which phosphorylates target carbohydrate residues on N-linked glycoproteins.

Lysosome

lysosomallysosomeslysosomal enzymes
Without this phosphorylation, the glycoproteins are not destined for lysosomes, and they escape outside the cell.

Autosome

autosomalautosomal DNAautosomes
The mucolipidoses are inherited in an autosomal recessive manner, that is, they occur only when a child inherits two copies of the defective gene, one from each parent.

Diagnosis

diagnosticdiagnosticsdiagnose
The diagnosis of ML is based on clinical symptoms, a complete medical history, and certain laboratory tests.

Laboratory

laboratorieslaboratory equipmentlab
The diagnosis of ML is based on clinical symptoms, a complete medical history, and certain laboratory tests.

Dominance (genetics)

autosomal recessiverecessiveautosomal dominant
The mucolipidoses are inherited in an autosomal recessive manner, that is, they occur only when a child inherits two copies of the defective gene, one from each parent.

Pseudo-Hurler polydystrophy

Mucolipidosis IIIMucolipidosis type 3
Pseudo-Hurler polydystrophy, also referred to as mucolipidosis III (ML III), is a lysosomal storage disease closely related to I-cell disease (ML II).

Lysosomal storage disease

lysosomal storage diseaseslysosomal storage disorderlysosomal storage disorders

Cherry-red spot

cherry red spots
It is also seen in several other conditions, classically Tay–Sachs disease, but also in Niemann–Pick disease, Sandhoff disease, and mucolipidosis.