AnatomyDiseasesChemicals and Drugs
MucolipidosesTransferases (Other Substituted Phosphate Groups)Transient Receptor Potential ChannelsTRPM Cation ChannelsLysosomesMucopolysaccharidoses
LysosomalSialidosisAutosomal recessiveLysosomesSevereGeneDisorderGeneticSubsequentlyDiseasesAbnormalitiesResultGroupMedical
Lysosomal4
  • Conditions that cause molecules to build up inside lysosomes, including mucolipidosis III alpha/beta, are called lysosomal storage disorders. (medlineplus.gov)
  • Sialidosis, also known as mucolipidosis type I (ML I), is a rare inherited lysosomal storage disease that has clinical and histologic findings similar to the mucopolysaccharidoses and the sphingolipidoses. (medscape.com)
  • Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder caused by mutations in the MCOLN1 gene coding for mucolipin-1 (TRPML1). (ox.ac.uk)
  • Mutations in the α/β subunit precursor gene cause the severe lysosomal storage disorder mucolipidosis II (ML II) or the more moderate mucolipidosis III alpha/beta (ML III α/β), while mutations in the γ subunit gene cause the mildest disorder, mucolipidosis III gamma (ML III γ). (wustl.edu)
Sialidosis2
  • However, type I (sialidosis) is now classified as a glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis. (wikipedia.org)
  • Sphranger J, Gehler J, Cantz M. Mucolipidosis I--a sialidosis. (medscape.com)
Autosomal recessive1
  • 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. (wikipedia.org)
Lysosomes1
  • The signs and symptoms of mucolipidosis III alpha/beta are most likely due to the shortage of digestive enzymes inside lysosomes and the effects these enzymes have outside the cell. (medlineplus.gov)
Severe3
  • Osteoporosis and progressive joint problems also cause bone pain that becomes more severe over time in people with mucolipidosis III alpha/beta. (medlineplus.gov)
  • Mutations in the GNPTAB gene can also cause a similar but more severe disorder called mucolipidosis II alpha/beta . (medlineplus.gov)
  • A severe infantile mucolipidosis. (medscape.com)
Gene3
  • Mutations in the GNPTAB gene cause mucolipidosis III alpha/beta. (medlineplus.gov)
  • Mutations in the GNPTAB gene that cause mucolipidosis III alpha/beta result in reduced activity of GlcNAc-1-phosphotransferase. (medlineplus.gov)
  • Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV. (ox.ac.uk)
Disorder2
  • Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. (medlineplus.gov)
  • Mucolipidosis III alpha/beta is a rare disorder, although its exact prevalence is unknown. (medlineplus.gov)
Genetic1
Subsequently1
  • Spranger and Wiedermann subsequently classified this disease as mucolipidosis type II (ML II) because it had clinical characteristics that included mucopolysaccharidoses and sphingolipidoses. (medscape.com)
Diseases1
  • Initially classified as a lipomucopolysaccharidosis, this disease was later classified into the group of similar diseases now known as the mucolipidoses. (medscape.com)
Abnormalities1
  • People with mucolipidosis III alpha/beta often have heart valve abnormalities and mild clouding of the clear covering of the eye ( cornea ). (medlineplus.gov)
Result2
  • 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. (wikipedia.org)
  • Poor mental capacities, and difficulty reaching physical developmental milestones may also be result of mucolipidosis. (wikipedia.org)
Group1
  • 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.org)
Medical1