galactosialidosis

galactosialidosis

 [gah-lak″to-si-al″ĭdo´sis]
an autosomal recessive disorder clinically almost identical to sialidosis type II but due to a deficiency of both sialidase and β-galactosidase.

galactosialidosis

GM1 gangliosidosis AR condition due to a defective gene on chromosome 10, resulting in neuroaminidase and β-galactosidase deficiencies Clinical Neonatal onset with mental and physical retardation, seizures, visual defects, deafness, gargoyle facies, corneal clouding, and a cherry red spot of the macula. See Cherry red spots.
References in periodicals archive ?
Specific features of this work that should be highlighted are the reported ability to biochemically distinguish galactosialidosis [Online Mendelian Inheritance in Man (OMIM) #256540] from sialidosis (OMIM #256550) and to more reliably detect mucolipidosis II/III (OMIM #252500/252600/252605) and especially aspartylglucosaminuria (OMIM #208400), previously a very difficult diagnosis to make in early childhood.
Fibroblast culture was performed with a prediagnosis of sialidosis or galactosialidosis.
In galactosialidosis, there is a defect in the structure of cathepsin.
Galactosialidosis is an autosomal recessive genetic disorder caused by a primary defect of the CTSA gene (cathepsin A) (chromosomal locus, 20ql3.
16 (Sial2Hexose3HexNAc1) appeared more prominent even in later-onset sialidosis (n = 2) compared to their concentrations in a patient with neonatal onset of galactosialidosis.
Isolation and structural characterization of twenty-one sialyloligosaccharides from galactosialidosis urine.
23) Galactosialidosis 1/1 MPS IV B NA [alpha]-D-Mannosidase [alpha]-Mannosidosis 2/2 5 (EC 3.
beta]G activity is also severely decreased in galactosialidosis, a disorder resulting from deficiency in cathepsin A/protective protein.
Total acid [alpha]-glucosidase (a) Disorder n [micro]g/L Control 195 17 (2-61) Acid lipase (c) 2 76 (65-87) Fabry (c) 27 10 (5-46) Galactosialidosis 1 14 Gaucher (c) 87 40 (0-737) GM I (d) 14 16 (7-29) Mucolipidosis 14 149 (7-273) II/III (c) Krabbe 14 17 (5-31) Mannosidosis 9 10 (6-25) MLD 34 17 (1-55) MSD (c) 4 27 (22-102) MPS I 24 19 (3-27) MPS II (c) 23 26 (13-46) MPS IIIA (c) 24 23 (2-40) MPS IIIB 19 20 (10-38) MPS IIIC 3 18 (13-22) MPS IIID 3 25 (6-29) MPS IVA (c) 16 14 (6-21) MPS VI 10 12 (5-65) N-P (A/B) (c) 10 39 (39-84) N-P (C) (c) 13 24 (15-84) Pompe (e) 22 0.
Urinary oligosaccharides Disease Sialyl-oligosaccharides Sialidose I Sialidose II Galactosialidosis Galactosyl-oligosaccharides GMI gangliosidosis Morquio type B Glucosaminyl-oligosaccharides Sandhorf disease Fucosyl-oligosaccharides Fucosidosis R-GIcNAc([beta]1-N)Asn (a) Aspartylglucosaminuria [alpha]-Mannosyl-oligosaccharides [alpha]-Mannosidosis with a GIcNAc residue at the reducing end Man([beta]1-4)GIcNAc R-Mannosidosis (a) R, oligosaccharide group.
Age, (a) Disorder n years Control 111 7 (0-66) Cystinosis (e) 9 6 (1-24) Fabry disease (e) 27 27 (4-47) Galactosialidosis 1 16 Gaucher disease 52 19 (0-73) GM I-gangliosidosis 12 3 (0-15) Mucolipidosis II/III 16 7 (0-25) Krabbe disease (e) 11 0.
Animal models currently in use include dog models for fucosidosis [6] and MPS VII [7]; cat models for MPS I and VI [7,8]; goat models of [beta]-mannosidosis [9] and MPS IIID [10]; and mouse models for MPS VII [11], galactosialidosis [12], and Nieman--Pick disease [13].