The Mucopolysaccharidoses: Advances in Understanding and Treatment
Anionic groups are provided by carboxyl groups of the hexuronic acid and/or sulfate esters, which are most often located on carbon 4 or 6 of the hexosamine moiety. Morquio's syndrome (probably more than one allelic form) Severe bone changes of distinctive type, cloudy cornea, aortic regurgitati...
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Published in | Pediatric annals Vol. 7; no. 2; pp. 64 - 98 |
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Main Author | |
Format | Journal Article |
Language | English |
Published |
Thorofare
SLACK INCORPORATED
01.02.1978
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Subjects | |
Online Access | Get full text |
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Summary: | Anionic groups are provided by carboxyl groups of the hexuronic acid and/or sulfate esters, which are most often located on carbon 4 or 6 of the hexosamine moiety. Morquio's syndrome (probably more than one allelic form) Severe bone changes of distinctive type, cloudy cornea, aortic regurgitation Homozygous for Morquio gene Keratan sulfate N-acetyl hexosaminidase ; 4-SO4, sulfatase MPS V: Maroteaux-Lamy syndrome, mild form Severe osseous and corneal change, normal intellect Homozygous for allele at M-L locus Dermatan sulfate MPS VII: β-glucuronidase deficiency (more than one allelic form — ?) Hepatosplenomegaly, dysostosis multiplex, white cell inclusions, mental retardation Homozygous for mutant gene β-glucuronidase locus Dermatan sulfate and Heparan sulfate β-glucuronidase Table 2 The Genetic Mucopolysaccharidoses Despite the confusion, most agree that the minimal requisite finding for establishing a diagnosis of mucopolysaccharidosis is the presence of glycosaminoglycanuria. [...]there seems to be no accurate screening method during either the prenatal or the neonatal period. |
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ISSN: | 0090-4481 1938-2359 |
DOI: | 10.3928/00904481-19780201-06 |