Biomaterial Database

[Disorders of phosphorylation system of lysosomal enzymes [mucolipidosis II, III]]. 1998

M Owada

Department of Pediatrics, Nihon University Surugadai Hospital.

UI	MeSH Term	Description	Entries
D008247	Lysosomes	A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured or undergoes MEMBRANE FUSION. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed).	Autolysosome,Autolysosomes,Lysosome
D009081	Mucolipidoses	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. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)	Cherry Red Spot Myoclonus Syndrome,Ganglioside Sialidase Deficiency Disease,I-Cell Disease,Lipomucopolysaccharidosis,Mucolipidosis,Myoclonus Cherry Red Spot Syndrome,Pseudo-Hurler Polydystrophy,Sialidosis,Cherry Red Spot-Myoclonus Syndrome,Deficiency Disease, Ganglioside Sialidase,Glycoprotein Neuraminidase Deficiency,Inclusion Cell Disease,Mucolipidosis I,Mucolipidosis II,Mucolipidosis III,Mucolipidosis III Alpha Beta,Mucolipidosis IIIa,Mucolipidosis IV,Mucolipidosis Type 1,Mucolipidosis Type I,Mucolipidosis Type II,Mucolipidosis Type III,Mucolipidosis Type IV,Myoclonus-Cherry Red Spot Syndrome,Psuedo-Hurler Disease,Sialolipidosis,Type I Mucolipidosis,Type II Mucolipidosis,Type III Mucolipidosis,Type IV Mucolipidosis,Deficiencies, Glycoprotein Neuraminidase,Deficiency, Glycoprotein Neuraminidase,Glycoprotein Neuraminidase Deficiencies,I Cell Disease,I-Cell Diseases,Inclusion Cell Diseases,Lipomucopolysaccharidoses,Mucolipidoses, Type I,Mucolipidoses, Type II,Mucolipidoses, Type III,Mucolipidoses, Type IV,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,Sialolipidoses,Type I Mucolipidoses,Type II Mucolipidoses,Type III Mucolipidoses,Type IV Mucolipidoses
D010727	Phosphoric Diester Hydrolases	A class of enzymes that catalyze the hydrolysis of one of the two ester bonds in a phosphodiester compound. EC 3.1.4.	Phosphodiesterase,Phosphodiesterases,Hydrolases, Phosphoric Diester
D010766	Phosphorylation	The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.	Phosphorylations
D011379	Prognosis	A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.	Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017855	Transferases (Other Substituted Phosphate Groups)	A class of enzymes that transfers substituted phosphate groups. EC 2.7.8.	Phosphotransferases (Other Substituted Phosphate Groups)