Morquio-like syndrome (MPS IV B) associated with deficiency of a β-galactosidase

J. E. Trojak, C. K. Ho, R. A. Roesel, L. S. Levin, S. E. Kopits, G. H. Thomas, S. Toma

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Classic Morquio syndrome (MPS IV A) is an autosomal recessive disorder characterized by short stature, mild corneal clouding, thin enamel, normal intelligence and typical skeletal changes including platyspondylia and odontoid hypoplasia. Excessive keratan sulfate is excreted in the urine. The disorder results from a deficiency of galactosamine-6-sulfate sulfatase. Arbisser et al. described a girl with a mild Morquio-like syndrome, normal galactosamine-6-sulfate sulfatase activity, and β-galactosidase deficiency. They suggested that the condition be termed Morquio syndrome, type B (MPS IV B) to distinguish it from the classic Morquio syndrome, type A. We report a brother and sister who have many of the features of the Morquio syndrome (short stature, corneal clouding, thoracic kyphosis, pectus carinatum, mild dysostosis multiplex with platyspondylia and odontoid hypoplasia, and normal intelligence), but who are only mildly affected and have deficiency of a β-galactosidase against certain non-ganglioside substrates. In contrast to MPS IV A, their enamel is normal.

Original languageEnglish (US)
Title of host publicationJohns Hopkins Medical Journal
Pages75-79
Number of pages5
Volume146
Edition2
StatePublished - 1980
Externally publishedYes

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Mucopolysaccharidosis IV
Galactosidases
N-acetylglucosamine-6-sulfatase
Dental Enamel
Intelligence
Sulfates
Siblings
Dysostoses
Keratan Sulfate
Galactosamine
Kyphosis
Thorax
Urine

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Trojak, J. E., Ho, C. K., Roesel, R. A., Levin, L. S., Kopits, S. E., Thomas, G. H., & Toma, S. (1980). Morquio-like syndrome (MPS IV B) associated with deficiency of a β-galactosidase. In Johns Hopkins Medical Journal (2 ed., Vol. 146, pp. 75-79)

Morquio-like syndrome (MPS IV B) associated with deficiency of a β-galactosidase. / Trojak, J. E.; Ho, C. K.; Roesel, R. A.; Levin, L. S.; Kopits, S. E.; Thomas, G. H.; Toma, S.

Johns Hopkins Medical Journal. Vol. 146 2. ed. 1980. p. 75-79.

Research output: Chapter in Book/Report/Conference proceedingChapter

Trojak, JE, Ho, CK, Roesel, RA, Levin, LS, Kopits, SE, Thomas, GH & Toma, S 1980, Morquio-like syndrome (MPS IV B) associated with deficiency of a β-galactosidase. in Johns Hopkins Medical Journal. 2 edn, vol. 146, pp. 75-79.
Trojak JE, Ho CK, Roesel RA, Levin LS, Kopits SE, Thomas GH et al. Morquio-like syndrome (MPS IV B) associated with deficiency of a β-galactosidase. In Johns Hopkins Medical Journal. 2 ed. Vol. 146. 1980. p. 75-79
Trojak, J. E. ; Ho, C. K. ; Roesel, R. A. ; Levin, L. S. ; Kopits, S. E. ; Thomas, G. H. ; Toma, S. / Morquio-like syndrome (MPS IV B) associated with deficiency of a β-galactosidase. Johns Hopkins Medical Journal. Vol. 146 2. ed. 1980. pp. 75-79
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AU - Ho, C. K.

AU - Roesel, R. A.

AU - Levin, L. S.

AU - Kopits, S. E.

AU - Thomas, G. H.

AU - Toma, S.

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AB - Classic Morquio syndrome (MPS IV A) is an autosomal recessive disorder characterized by short stature, mild corneal clouding, thin enamel, normal intelligence and typical skeletal changes including platyspondylia and odontoid hypoplasia. Excessive keratan sulfate is excreted in the urine. The disorder results from a deficiency of galactosamine-6-sulfate sulfatase. Arbisser et al. described a girl with a mild Morquio-like syndrome, normal galactosamine-6-sulfate sulfatase activity, and β-galactosidase deficiency. They suggested that the condition be termed Morquio syndrome, type B (MPS IV B) to distinguish it from the classic Morquio syndrome, type A. We report a brother and sister who have many of the features of the Morquio syndrome (short stature, corneal clouding, thoracic kyphosis, pectus carinatum, mild dysostosis multiplex with platyspondylia and odontoid hypoplasia, and normal intelligence), but who are only mildly affected and have deficiency of a β-galactosidase against certain non-ganglioside substrates. In contrast to MPS IV A, their enamel is normal.

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