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 ?
Galactosialidosis (GS) is an uncommon lysosomal storage condition, which belongs to the glycoproteinosis subgroup of LSDs, inherited as an autosomal recessive trait [3].
Wass, "Galactosialidosis: a unique disease with significant clinical implications during perioperative anesthesia management," Anesthesia and Analgesia, vol.
Genetic mutations in the CathA gene are characterized by the occurrence of the lysosomal storage disorder galactosialidosis, which involves a secondary deficiency of Neu1 and [beta]-Gal [6].
(1982) Galactosialidosis ([beta]-galactosidase-neuraminidase deficiency): a possible role of serine-thiol proteases in the degradation of [beta]-galactosidase molecules.
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. [beta]-galactosidase activity was found to be normal in the sample which was sent for enzyme analysis, while no neuroaminidase activity was found (Johannes-Gutenberg Universitat Mainz Kinderklinik Biochemical Laboratory).
Galactosialidosis is an autosomal recessive genetic disorder caused by a primary defect of the CTSA gene (cathepsin A) (chromosomal locus, 20ql3.1) (13).
Isolation and structural characterization of twenty-one sialyloligosaccharides from galactosialidosis urine.
Enzyme Disease P (a)/C Reference [alpha]-L-Iduronidase MPS I 13/7 2 (EC 3.2.1.76) Iduronate sulfatase MPS II 10/8 3 (EC 3.1.6.12) MSD 1/2 Arylsulfatase B MPS VI 10/8 4 (EC 3.1.6.1) MSD 1/2 [beta]-D-Glucuronidase MPS VII 2/1 5 (EC 3.2.1.31) [beta]-D-Galactosidase GM1 gangliosidosis 10/10 5 (EC 3.2.1.23) Galactosialidosis 1/1 MPS IV B NA [alpha]-D-Mannosidase [alpha]-Mannosidosis 2/2 5 (EC 3.2.1.24) [alpha]-L-Fucosidase Fucosidosis NA 5 (EC 3.2.1.51) [beta]-Hexosaminidase Sandhoff 3/3 5 (EC 3.2.1.30) Mucolipidosis II/III 5/4 (a) P, patients; C, carriers; NA, not available.
[beta]G activity is also severely decreased in galactosialidosis, a disorder resulting from deficiency in cathepsin A/protective protein.
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.
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].