Disease relevance of Mucopolysaccharidosis IV

• Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease [1].
• The diseases were Tay-Sachs disease, ceroid-lipofuscinosis (Jansky-Bielschowsky type), Niemann-Pick disease (type B), highly suspected adrenoleukodystrophy, I-cell disease, mucolipidosis of the beta-galactosidase deficient type, Hurler disease, Hunter disease and Morquio disease [2].
• Patients with Sanfilippo syndrome, type A, Sanfilippo syndrome, type D, Maroteaux-Lamy syndrome, Morquio syndrome, type A, and multiple sulfatase deficiency were clearly distinguished from normal controls [3].
• GOALS: The aim of this study is to evaluate the benefits of early intervention in two major spondyloepiphyseal dysplasias of Saudi Arabia, namely, multiple sulfatase deficiency (MSD, Austin's disease) and Morquio's disease [4].

High impact information on Mucopolysaccharidosis IV

• We have identified two different exonic mutations causing GalNAc6S sulfatase deficiency in two unrelated Japanese families, in one patient with classical Morquio disease, and in two brothers with a mild form of MPS IVA [5].
• The activity of N-acetyl galactosamine-6-sulfate sulfatase was studied for the first time in the liver and brain of a patient with a clinically typical case of Morquio syndrome with keratosulfaturia [6].
• Mutations in the lysosomal acid beta-galactosidase (EC 3.2.1.23) underlie two different disorders: GM1 gangliosidosis, which involves the nervous system and visceral organs to varying extents, and Morquio's syndrome type B (Morquio B disease), which is a skeletal-connective tissue disease without any CNS symptoms [7].
• A sample from a patient with Morquio's disease showed a much higher ratio of the 6-sulfate to 4-sulfate than in other diseases, and N-acetylgalactosamine-6-sulfate was detected [8].
• Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B [9].

Chemical compound and disease context of Mucopolysaccharidosis IV

• Further, the keratan sulfate in samples from Morquio's disease patients migrated differently from authentic keratan sulfate unless digested with chondroitinase ABC [10].
• Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A [11].
• The enzymic defect in Morquio's disease: the specificity of N-acetylhexosamine sulfatases [12].
• The activities of sulfatases required for the degradation of HS were reduced to a greater extent than those for the degradation of dermatan sulfate (DS), and those of sulfatases associated with basic defect of Morquio disease type A were moderately decreased or normal [13].
• Patient satisfaction and an acceptable occlusal relationship were achieved by following an optimal treatment plan when considering the general status of the patient with Morquio syndrome [14].

Biological context of Mucopolysaccharidosis IV

• Molecular genetic studies on a severely affected patient with MPSIVA (Morquio disease), without karyotypic abnormality, revealed a partial submicroscopic deletion of 16q24.3 and a single point mutation on the other allele, with no functional GALNS activity [1].
• To investigate MPS IV A patients at the level of the genome, we analyzed the structure of the human GALNS-encoding gene [15].
• Indeed, DMC phenotype is often compared to that of type IV mucopolysaccharidosis (Morquio disease), a lysosomal disorder due to either N-acetylgalactosamine-6-sulphatase or beta-galactosidase deficiency [16].
• Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA) [17].

Anatomical context of Mucopolysaccharidosis IV

• A deficiency of glycoprotein neuraminidase (sialidase, acylneuraminyl hydrolase, EC 3.2.1.18) activity was found in fibroblasts from a patient with the clinical symptoms of Morquio disease type A (mucopolysaccharidosis IV A) [11].
• Mitral valve, coronary arteries, cartilage, and liver were studied by light and electron microscopy in a 15 year old boy with Morquio's syndrome, a genetic mucopolysaccharidosis, in which a deficiency of lysosomal hexosamine sulfatase is associated with accumulations of keratan sulfate in various organs [18].

Gene context of Mucopolysaccharidosis IV

• Although a number of mutations of the GALNS gene of MPS IV A patients have been described, pathogenesis of the disorder still remains elusive [19].
• Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part II: Dental findings [20].
• Pulmonary function in Morquio's disease: A study of two siblings [21].
• Two patients had Morquio's syndrome, two had os odontoideum , and one had Klippel-Feil syndrome, and in all five the lateral radiographs of the cervical spine in flexion and extension were equivocal with regard to instability or were difficult to interpret because of the bone anomalies [22].
• This examination provided valuable diagnostic information on some neuronal storage diseases but not on Morquio disease or highly suspected adrenoleukodystrophy [2].

References