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Mucolipidoses (Sialidosis)

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A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. Mental retardation and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)

Also Known As:

Sialidosis; I-Cell Disease; Mucolipidosis; Pseudo-Hurler Polydystrophy; Mucolipidosis I; Mucolipidosis Type IV; Mucolipidosis II; Mucolipidosis III; Lipomucopolysaccharidosis; Mucolipidosis IV; Mucolipidosis Type II; Deficiency Disease, Ganglioside Sialidase; Inclusion Cell Disease; Mucolipidosis Type 1; Mucolipidosis Type I; Mucolipidosis Type III; Psuedo-Hurler Disease; Type I Mucolipidosis; Type II Mucolipidosis; Type III Mucolipidosis; Type IV Mucolipidosis; 1, Mucolipidosis Type; 1s, Mucolipidosis Type; Cell Disease, Inclusion; Cell Diseases, Inclusion; Disease, I-Cell; Disease, Inclusion Cell; Disease, Psuedo-Hurler; Diseases, I-Cell; Diseases, Inclusion Cell; Diseases, Psuedo-Hurler; I Cell Disease; I-Cell Diseases; IIIs, Mucolipidosis; Inclusion Cell Diseases; Lipomucopolysaccharidoses; Mucolipidoses, Type I; Mucolipidoses, Type II; Mucolipidoses, Type III; Mucolipidoses, Type IV; Mucolipidosis IIIs; Mucolipidosis IIs; Mucolipidosis IVs; Mucolipidosis Is; Mucolipidosis Type 1s; Mucolipidosis Type IIIs; Mucolipidosis Type IIs; Mucolipidosis Type IVs; Mucolipidosis Type Is; Mucolipidosis, Type I; Mucolipidosis, Type II; Mucolipidosis, Type III; Mucolipidosis, Type IV; Polydystrophy, Pseudo-Hurler; Pseudo Hurler Polydystrophy; Psuedo Hurler Disease; Psuedo-Hurler Diseases; Sialidoses; Type 1, Mucolipidosis; Type 1s, Mucolipidosis; Type I Mucolipidoses; Type II Mucolipidoses; Type III Mucolipidoses; Type IV Mucolipidoses; Cherry Red Spot Myoclonus Syndrome; Ganglioside Sialidase Deficiency Disease; Myoclonus Cherry Red Spot Syndrome

Networked: 587 relevant articles (8 outcomes, 36 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Mucolipidoses (Sialidosis)
2.	Lysosomal Storage Diseases (Lysosomal Storage Disease)
3.	Mucopolysaccharidoses
4.	GM1 Gangliosidosis (Gangliosidosis GM1)
5.	Gaucher Disease (Gaucher's Disease)

Experts

1.	Braulke, Thomas: 14 articles (08/2015 - 09/2005)
2.	Kiselyov, Kirill: 8 articles (01/2014 - 12/2005)
3.	Pohl, Sandra: 7 articles (08/2015 - 03/2009)
4.	d'Azzo, Alessandra: 7 articles (06/2014 - 06/2002)
5.	Otomo, Takanobu: 6 articles (12/2013 - 03/2009)
6.	Pshezhetsky, A V: 6 articles (02/2003 - 04/2000)
7.	Steet, Richard: 5 articles (01/2015 - 11/2009)
8.	Schiffmann, Raphael: 5 articles (01/2014 - 03/2002)
9.	Kollmann, Katrin: 5 articles (12/2013 - 01/2010)
10.	Pshezhetsky, Alexey V: 5 articles (07/2013 - 01/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mucolipidoses:

1.	Neuraminidase (Sialidase)IBA 07/01/2005 - "In this study we tested the therapeutic efficacy of baculovirus (BV) expressed mouse neuraminidase (Neu1) in sialidosis mice. " 02/05/1981 - "Mucolipidosis I: studies of sialidase activity and a prenatal diagnosis." 01/01/1980 - "A comparative and simultaneous study could not reveal substantial differences between the residual neuraminidase activity found in the various clinical forms of sialidosis. " 01/01/1980 - "Neuraminidase studies in sialidosis." 02/20/2015 - "Mutations in the NEU1 gene that encodes lysosomal sialidase cause sialidosis. "
2.	EnzymesIBA 07/01/2009 - "Inherited defects in the GlcNAc-1-phosphotransferase complex result in missorting and cellular loss of lysosomal enzymes, and the subsequent lysosomal dysfunction causes the lysosomal storage disorders mucolipidosis types II and III. Biosynthetic studies and the availability of Man6P receptor-deficient mouse models have provided new insights into the structural requirements for preferential binding of subsets of lysosomal enzymes to Man6P receptors as well as the identification of alternative targeting pathways." 12/01/2012 - "In contrast, in samples from cats affected with mucolipidosis II, activities of lysosomal enzymes were markedly increased. " 01/01/2011 - "Mucolipidosis III gamma is an autosomal recessive disorder with defective phosphorylation and trafficking of lysosomal enzymes. " 11/01/2009 - "Mutational analysis of the GNPTAB gene was performed in 46 apparently unrelated patients with mucolipidosis IIalpha/beta or IIIalpha/beta, characterized by the mistargeting of multiple lysosomal enzymes as a consequence of a UDP-GlcNAc-1-phosphotransferase defect. " 03/01/2009 - "Defects in GNPTG cause mucolipidosis type III gamma, which is characterized by missorting and cellular loss of lysosomal enzymes leading to lysosomal accumulation of storage material. "
3.	Neuraminidase 1 deficiencyIBA 01/01/1986 - "Pathological study on a severe sialidosis (alpha-neuraminidase deficiency)." 10/01/1980 - "Biochemical study showed an alpha-neuraminidase deficiency in cultured fibroblasts: the decrease in this enzyme activity was compared to that found in a patient affected by mucolipidosis III." 10/01/1980 - "Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult." 05/18/2001 - "Transgenic expression of mutants followed by density gradient centrifugation of cellular extracts confirmed this hypothesis and showed that sialidase deficiency in some sialidosis patients results from disruption of the lysosomal multienzyme complex." 08/01/1998 - "The existence of naturally-occurring animal models for sialidase deficiency (SM/J mouse) and the phosphotransferase deficiency (mucolipidosis III cat) provide opportunities to develop new therapeutic approaches."
4.	N-Acetylneuraminic Acid (Sialic Acid)IBA 02/01/2014 - "Subsequent comprehensive diagnostic processes and biochemical and molecular genetics characterization revealed a rare genetic cause, namely sialidosis type 2. Liquid chromatography-mass spectrometry revealed increased amounts of bound sialic acid in the urine. " 01/01/1987 - "Organs obtained at autopsy from a patient with sialidosis were analyzed for 'bound' sialic acid and their ganglioside and neutral glycolipid patterns determined. " 01/01/1987 - "Purification and characterization of sialic acid containing materials accumulated in cultured skin fibroblasts from a patient with type II sialidosis." 01/01/1986 - "Analysis of the isolated material showed the excess radioactivity in the sialidosis fibroblasts to be due to increased levels of [3H]sialic acid covalently bound to a variety of anionic sialyl conjugates. " 01/01/1983 - "Patients with mucolipidoses I and II excreted the largest amounts of bound sialic acid. "
5.	Neuraminidase deficiency with beta-galactosidase deficiencyIBA 08/27/2004 - "Expression of Neu4 in the cells of sialidosis and galactosialidosis patients results in clearance of storage materials from lysosomes suggesting that Neu4 may be useful for developing new therapies for these conditions." 04/01/2006 - "Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement." 11/01/2005 - "Storage staining affinities and storage distribution in placenta and fetal organs allowed differential diagnosis from other LSDs but cannot differentiate between SASD, sialidosis, and galactosialidosis. " 06/15/2003 - "Application of our protocol to 124 individuals at risk for SAMD led to the diagnosis of five affected patients, two with type I sialidosis, one with type II sialidosis, and two with galactosialidosis. " 06/01/2002 - "In humans, primary or secondary deficiency of this enzyme leads to two clinically similar neurodegenerative lysosomal storage disorders: sialidosis and galactosialidosis (GS). "
6.	HydrolasesIBA 06/18/2013 - "These results indicate that the DMAP interaction domain of the α subunit functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II." 06/18/2013 - "Second, recombinant GlcNAc-1-phosphotransferase containing a missense mutation in the DMAP interaction domain (Lys732Asn) identified in a patient with mucolipidosis II exhibited full activity toward the simple sugar α-methyl d-mannoside but impaired phosphorylation of acid hydrolases. " 01/01/2010 - "Mutations in these genes result in two severe diseases, mucolipidosis type II (MLII) and III (MLIII), biochemically characterized by the missorting of multiple lysosomal hydrolases due to impaired formation of the M6P recognition marker, and general lysosomal dysfunction. " 12/17/2004 - "We report that fibroblasts isolated from patients affected with inclusion-cell disease (ICD), having a deficient activity of almost all lysosomal hydrolases, are resistant to the toxic effect of TNF. " 07/01/1995 - "The abnormality in the intracellular transport of the acid hydrolases into the lysosomes in I-cell disease is briefly reviewed and discussed."
7.	G(M3) GangliosideIBA 01/01/1991 - "This fraction was highly specific for the hydrolysis of sialic acid from GM3 ganglioside, and was equally effective in fibroblasts from patients with mucolipidosis IV and in fibroblasts from controls." 01/04/1983 - "In sialidosis with partial beta-galactosidase deficiency, the sialidases of the lysosomes showed 3-5% activity toward hydrophilic substrates and 25% activity toward GM3 ganglioside as compared with sialidase activities of the controls. " 05/15/1989 - "Ganglioside GM3 sialidase activity in fibroblasts of normal individuals and of patients with sialidosis and mucolipidosis IV. Subcellular distribution and and some properties." 05/15/1989 - "In fibroblasts from patients with mucolipidosis IV (ML IV), both the Triton X-100- and the cholate-stimulated ganglioside GM3 sialidase activities were in the range of normal controls. " 05/15/1989 - "In fibroblasts from sialidosis patients, the cholate-stimulated ganglioside GM3 sialidase activity, but not that of the Triton-activated enzyme, was profoundly diminished. "
8.	Cystine (L-Cystine)IBA 07/01/1986 - "To clarify whether the intralysosomal accumulation of cystine in I-cell-disease fibroblasts was due to a defective disposal mechanism, we measured the rates of clearance of free [35S]cystine from intact normal, cystinotic and I-cell-disease fibroblasts. " 07/01/1986 - "Impaired clearance of free cystine from lysosome-enriched granular fractions of I-cell-disease fibroblasts." 07/01/1986 - "I-cell-disease granular fractions displayed prolonged half-times for cystine disposal (mean = 108 min), suggesting that I-cell-disease fibroblasts, like cystinotic cells, possess a defective carrier mechanism for cystine transport." 07/01/1986 - "Lysosome-rich granular fractions isolated from three different cystine-loaded normal, cystinotic and I-cell-disease fibroblast strains were similarly examined for non-radioactive cystine egress. " 12/01/1979 - "Elevated cystine levels in cultured skin fibroblasts from patients with I-cell disease."
9.	5-Hydroxytryptophan (5 Hydroxytryptophan)IBA 09/01/1988 - "Successful treatment of cherry red spot-myoclonus syndrome with 5-hydroxytryptophan." 09/01/1988 - "A 14-year-old Saudi boy with cherry red spot-myoclonus syndrome and documented neuraminidase deficiency responded well to titrated doses of 5-hydroxytryptophan as an add-on treatment."
10.	beta-Galactosidase (Lactaid)IBA 10/01/1985 - "We describe the structures of two positional isomers of sialylheptasaccharide isolated from the urine of a patient with sialidosis with partial deficiency of beta-galactosidase. " 01/12/1978 - "The greatest decreases in apparent V were obtained for acid beta-D-galactosidase activities in I-cell disease crude supernatant fluids, and for the separated I-cell disease "B" enzyme. " 02/15/1977 - "Leukocyte GM1 beta-galactosidase was also deficient in mucolipidoses. " 05/01/1976 - "This observation offers support to the hypothesis that beta-galactosidase may play a role in the physiopathology of these mucolipidoses." 05/01/1976 - "In homogenates of mass-cultured I-cells from patients with MLII (I-cell disease), the residual specific activity of beta-galactosidase is between 3 and 5 times lower than that in the I-cells from patients with MLIII (pseudopolydystrophy). "

Therapies and Procedures

1.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/01/1989 - "We believe that the measurement of tear enzyme levels in I-cell disease is useful for knowing the efficacy of the bone marrow transplantation." 09/01/1986 - "The first case of successful bone marrow transplantation (BMT) in a patient with I-cell disease is reported. " 01/01/1989 - "We examined the lysosomal enzyme levels in tear fluids from a patient with I-cell disease after treatment by bone marrow transplantation. " 01/01/1989 - "Improvement of tear lysosomal enzyme levels after treatment with bone marrow transplantation in a patient with I-cell disease." 09/01/1986 - "Biochemical improvement after treatment by bone marrow transplantation in I-cell disease."
2.	Continuous Positive Airway Pressure 02/01/1998 - "Improved morbidity with the use of nasal continuous positive airway pressure in I-cell disease." 02/01/1998 - "We evaluated use of nasal continuous positive airway pressure (NCPAP) for 6 months in a 2-year-old girl with I-cell disease, obstructive sleep apnea (OSA), and craniofacial anomalies. "
3.	Anesthesia 11/01/2002 - "[Anesthesia considerations in type III mucolipidosis]." 04/01/1980 - "[Anesthesia for patient with I cell disease (author's transl)]." 02/01/2011 - "Anesthesia for gingivectomy and dental extractions in a child with I-cell disease--a case report."
4.	Aftercare (After-Treatment) 01/01/1989 - "We examined the lysosomal enzyme levels in tear fluids from a patient with I-cell disease after treatment by bone marrow transplantation. " 01/01/1989 - "Improvement of tear lysosomal enzyme levels after treatment with bone marrow transplantation in a patient with I-cell disease." 09/01/1986 - "Biochemical improvement after treatment by bone marrow transplantation in I-cell disease." 02/10/2006 - "Fibroblasts derived from patients with congenital sialidosis (primary deficiency of neuraminidase-1) and galactosialidosis (secondary deficiency of neuraminidase-1) demonstrated impaired elastogenesis, which could be reversed after their transduction with neuraminidase-1 cDNA or after treatment with bacterial sialidase, which has a similar substrate specificity to human neuraminidase-1. "
5.	Transplants (Transplant) 11/01/2003 - "A 19-month old girl with I-cell disease received a bone marrow transplant (BMT) from an HLA-identical carrier brother. " 12/01/1998 - "Two patients with lysosomal storage disorders (mucolipidosis and MPS I.) rejected the haploidentical T-cell depleted graft 1 and 11 months after transplant, respectively. "