# 253010

MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B


Alternative titles; symbols

MORQUIO SYNDROME B
MPS IVB


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
3p22.3 Mucopolysaccharidosis type IVB (Morquio) 253010 AR 3 GLB1 611458
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE
- Autosomal recessive
GROWTH
Height
- Adult height 82-115 cm
- Short-trunked dwarfism
HEAD & NECK
Face
- Coarse facial features, mild
- Prognathism
Ears
- Hearing loss
Eyes
- Corneal opacities
Mouth
- Broad mouth
Teeth
- Widely spaced teeth
- Grayish enamel
- Frequent caries
CARDIOVASCULAR
Heart
- Valvular heart disease Aortic valve stenosis
Vascular
- Intimal thickening in the coronary arteries
RESPIRATORY
Airways
- Frequent upper respiratory tract infections
Lung
- Restrictive lung disease
CHEST
Ribs Sternum Clavicles & Scapulae
- Flaring of rib cage
- Prominent sternum
ABDOMEN
External Features
- Inguinal hernia
Liver
- Hepatomegaly, mild
SKELETAL
- Osteoporosis
Spine
- Platyspondyly
- Odontoid hypoplasia
- Cervical subluxation
- Kyphosis
- Hyperlordosis
- Scoliosis
- Ovoid vertebral bodies
Pelvis
- Coxa valga
- Constricted iliac wings
Limbs
- Joint laxity
- Genu valgum
- Ulnar deviation of the wrist
- Epiphyseal deformities of tubular bones
- Widened metaphyses
Hands
- Pointed proximal second through fifth metacarpals
NEUROLOGIC
Central Nervous System
- Normal intelligence
- Cervical myelopathy
LABORATORY ABNORMALITIES
- Beta-galactosidase deficiency in fibroblasts and white blood cells
- Keratan sulfate excretion in urine that decreases with age
MISCELLANEOUS
- Appear normal at birth
- Onset between 1-3 years
MOLECULAR BASIS
- Caused by mutation in the beta-galactosidase gene (GLB1, 611458.0009)

TEXT

A number sign (#) is used with this entry because mucopolysaccharidosis type IVB (MPS4B; Morquio syndrome B) is caused by homozygous or compound heterozygous mutation in the gene encoding beta-galactosidase (GLB1; 611458) on chromosome 3p22.

Morquio syndrome B is allelic to the various forms of GM1-gangliosidosis (see, e.g., 230500). The latter disorders show central nervous system involvement.


Description

Mucopolysaccharidosis type IVB (MPS4B) is an autosomal recessive disorder characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal. There is increased urinary keratan sulfate excretion (Suzuki et al., 2001).

See mucopolysaccharidosis type IVA (MPS4A; 253000), also known as Morquio syndrome A, a genetically distinct disorder with overlapping clinical features caused by mutation in the GALNS gene (612222) on chromosome 16q24.

There may also be a nonkeratan sulfate-excreting form of Morquio syndrome, so-called type C (252300).


Clinical Features

O'Brien et al. (1976) reported a 14-year-old girl with spondyloepiphyseal dysplasia, corneal clouding, and beta-galactosidase deficiency. Radiographic features included flattening of the vertebral bodies and femoral heads, coxa valga, abnormal metacarpal epiphyses, and narrowed phalanges. Beta-galactosidase activity was less than 5% of normal and both unaffected parents had about 50% residual enzyme activity. She had no neurologic abnormalities, which distinguished the disorder from GM1-galactosidase types I and II (230500, 230600).

Arbisser et al. (1977) reported another 14-year-old girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, and increased urinary keratan sulfate, but no detectable central nervous system abnormalities. At age 9 years, she had shown kyphosis, swinging gait, and hip pain. The increased keratan sulfate suggested Morquio syndrome A, but galactosamine-6-sulfate sulfatase (GALNS) activity was normal, and beta-galactosidase activity was decreased. Conjunctival biopsy showed intracytoplasmic vacuoles typical of a lysosomal storage disease. The patient's mother showed an intermediate level of beta-galactosidase; the father was not available for study. Arbisser et al. (1977) postulated that the deficiency of beta-galactosidase in this patient was responsible for inadequate degradation of keratan sulfate and the appearance of a milder form of the Morquio syndrome. The authors suggested the designation Morquio syndrome B (MPS IVB) to differentiate it from classic Morquio syndrome A.

Spranger (1977) commented that the 'unusual' form of Morquio syndrome described by Dale (1931) was similar to that described by Arbisser et al. (1977) and thus likely represented beta-galactosidase deficiency. Spranger (1977) also noted that failure to detect heparan sulfate activity in some patients may be due to technical problems or residual enzyme activity.

Groebe et al. (1980) reported 2 cases of Morquio syndrome due to beta-galactosidase deficiency. That beta-galactosidase was indeed the primary defect was indicated by the absence of an endogenous inhibitor and by the intermediate enzyme levels in parents.

Van Gemund et al. (1983) reported 3 Dutch sibs, born of consanguineous parents, with Morquio syndrome B and beta-galactosidase deficiency. Clinical features included dysplastic hip joints, thoracolumbar kyphosis, protruding sternum, progressive short stature, and corneal opacities. Radiographic studies showed platyspondyly with abnormal vertebral bodies.

Beck et al. (1987) described 3 sibs with Morquio syndrome B. They had short trunk dwarfism, dysplasia of the pelvis, and epiphyseal abnormalities. Intelligence was normal. All had profound deficiency of beta-galactosidase activity in cultured fibroblasts.

Giugliani et al. (1987) described a brother-sister pair with clinical, radiologic, and enzymatic evidence of Morquio syndrome B but with atypical mental regression. There were also some atypical properties of the residual beta-galactosidase activity. Giugliani et al. (1987) suggested that these findings indicated that further heterogeneity can result from mutation at the beta-galactosidase locus.

Caciotti et al. (2021) reported 9 patients, aged 5 to 54 years, with MPS IVB. The major clinical features in this cohort included dysostosis multiplex, genu valgus, short stature, and mildly coarse facies. Other features included mild mitral and/or tricuspid regurgitation in 5 patients, corneal clouding in 2, and mild hepatosplenomegaly in 2. Brain MRI was reported in 5 patients, and 2 had a thin corpus callosum.


Biochemical Features

Van der Horst et al. (1983) showed that fibroblasts from patients with Morquio syndrome B contained normal numbers of beta-galactosidase molecules with a normal turnover, but strongly reduced catalytic activity per enzyme molecule. Abnormal affinity for several substrates was found, including no detectable affinity for keratan sulfate and oligosaccharides. In contrast, these affinities were normal for the beta-galactosidase in adult type GM1-gangliosidosis fibroblasts (230650). Cell hybridization studies demonstrated that MPS IVB and the infantile and adult forms of GM1-gangliosidosis belong to the same complementation group.

Caciotti et al. (2021) reported biochemical findings in 9 patients with MPS IVB. Total glycosaminoglycans were elevated in the urine of 3 of 7 patients. Qualitative glycosaminoglycan analysis in urine did not show elevated keratan sulfate in any of the patients, but LC-MS/MS analysis in urine of 7 patients showed elevated levels of keratan sulfate in all 7. Urine disulfated disaccharides were significantly higher in patients with Morquio syndrome type A (253000) compared to patients with MPS IVB, and both values were higher than in controls.


Molecular Genetics

In 3 patients with Morquio syndrome B, Oshima et al. (1991) identified 3 different compound heterozygous mutations in the GLB1 gene (611458.0009-611458.0011).

In a 15-year-old Japanese boy who presented with Morquio syndrome B, Ishii et al. (1995) found compound heterozygosity for 2 mutations in the GLB1 gene (Y83H, 611458.0015 and R482C, 611458.0016).

In a French patient with Morquio syndrome B phenotype, Paschke et al. (2001) identified compound heterozygosity for 2 mutations in the GLB1 gene: T500A (611458.0020) and Q408P (611458.0021).

Caciotti et al. (2021) reported the GLB1 mutations in 9 patients, including 2 sib pairs, with MPS IVB. The mutations were identified by Sanger sequencing of the gene. Heterozygosity for the W273L mutation (611458.0009) was identified in 7 patients. Three novel mutations were identified, including a splicing mutation (611458.0027) and 2 missense mutations, V677G (611458.0028) and Y192C. In 1 patient (patient 7), only a single mutation (W273L) was identified; however, a potential splicing defect excluding exons 2-7 was identified in this patient, leading Caciotti et al. (2021) to hypothesize that a deep intronic mutation was also present.


Genotype/Phenotype Correlations

Hinek et al. (2000) performed functional expression studies on several GLB1 mutations resulting in Morquio syndrome B (see, e.g., G438E, 611458.0018; T500A; W273L, 611458.0009; and R482H, 611458.0010). All of the mutations were located in the coding region common to the GLB1 lysosomal enzyme and its splice variant S-Gal/EBP (elastin-binding protein), and none of the mutant proteins expressed EBP. Functional studies indicated that the mutant proteins resulted in impaired secretion of tropoelastin and inability to assemble elastic fibers, resulting in impaired elastogenesis.


See Also:

REFERENCES

  1. Arbisser, A. I., Donnelly, K. A., Scott, C. I., Jr., DiFerrante, N. M., Singh, J., Stevenson, R. E., Aylsworth, A. S., Howell, R. R. Morquio-like syndrome with beta-galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysaccharidosis IV B. Am. J. Med. Genet. 1: 195-205, 1977. [PubMed: 416714, related citations] [Full Text]

  2. Beck, M., Petersen, E. M., Spranger, J., Beighton, P. Morquio's disease type B (beta-galactosidase deficiency) in three siblings. S. Afr. Med. J. 72: 704-707, 1987. [PubMed: 3120323, related citations]

  3. Caciotti, A., Cellai, L., Tonin, R., Mei, D., Procopio, E., Di Rocco, M., Andaloro, A., Antuzzi, D., Rampazzo, A., Rigoldi, M., Forni, G., la Marca, G., Guerrini, R., Morrone, A. Morquio B disease: from pathophysiology towards diagnosis. Molec. Genet. Metab. 132: 180-188, 2021. [PubMed: 33558080, related citations] [Full Text]

  4. Dale, T. Unusual form of familial osteochondrodystrophy. Acta Radiol. 12: 337-358, 1931.

  5. Giugliani, R., Jackson, M., Skinner, S. J., Vimal, C. M., Fensom, A. H., Fahmy, N., Sjovall, A., Benson, P. F. Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B). Clin. Genet. 32: 313-325, 1987. [PubMed: 3121219, related citations] [Full Text]

  6. Groebe, H., Krins, M., Schmidberger, H., von Figura, K., Harzer, K., Kresse, H., Paschke, E., Sewell, A., Ullrich, K. Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency: report of two cases. Am. J. Hum. Genet. 32: 258-272, 1980. [PubMed: 6446239, related citations]

  7. Hinek, A., Zhang, S., Smith, A. C., Callahan, J. W. Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. Am. J. Hum. Genet. 67: 23-36, 2000. [PubMed: 10841810, images, related citations] [Full Text]

  8. Ishii, N., Oohira, T., Oshima, A., Sakuraba, H., Endo, F., Matsuda, I., Sukegawa, K., Orii, T., Suzuki, Y. Clinical and molecular analysis of a Japanese boy with Morquio B disease. Clin. Genet. 48: 103-108, 1995. [PubMed: 7586649, related citations] [Full Text]

  9. O'Brien, J. S., Gugler, E., Giedion, A., Weismann, R., Herschkowitz, N., Meier, C., Leroy, J. G. Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency. Clin. Genet. 9: 495-504, 1976. [PubMed: 817853, related citations] [Full Text]

  10. Oshima, A., Yoshida, K., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Suzuki, Y. Human beta-galactosidase gene mutations in Morquio B disease. Am. J. Hum. Genet. 49: 1091-1093, 1991. [PubMed: 1928092, related citations]

  11. Paschke, E., Milos, I., Kreimer-Erlacher, H., Hoefler, G., Beck, M., Hoeltzenbein, M., Kleijer, W., Levade, T., Michelakakis, H., Radeva, B. 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. Hum. Genet. 109: 159-166, 2001. [PubMed: 11511921, related citations] [Full Text]

  12. Spranger, J. W. Beta-galactosidase and the Morquio syndrome. (Editorial) Am. J. Med. Genet. 1: 207-209, 1977. [PubMed: 416715, related citations] [Full Text]

  13. Suzuki, Y., Oshima, A., Nanba, E. Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.) New York: McGraw-Hill (pub.) 2001. Pp. 3775-3809.

  14. Trojak, J. E., Ho, C.-K., Roesel, R. A., Levin, L. S., Kopits, S. E., Thomas, G. H., Toma, S. Morquio-like syndrome (MPS IVB) associated with deficiency of beta-galactosidase. Johns Hopkins Med. J. 146: 75-79, 1980. [PubMed: 6766519, related citations]

  15. van der Horst, G. T. J., Kleijer, W. J., Hoogeveen, A. T., Huijmans, J. G. M., Blom, W., van Diggelen, O. P. Morquio B syndrome: a primary defect in beta-galactosidase. Am. J. Med. Genet. 16: 261-275, 1983. [PubMed: 6418007, related citations] [Full Text]

  16. van Gemund, J. J., Giesberts, M. A. H., Eerdmans, R. F., Blom, W., Kleijer, W. J. Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency: report of three cases in one family. Hum. Genet. 64: 50-54, 1983. [PubMed: 6409799, related citations] [Full Text]


Hilary J. Vernon - updated : 05/11/2021
Cassandra L. Kniffin - reorganized : 10/1/2007
Cassandra L. Kniffin - updated : 9/27/2007
Creation Date:
Victor A. McKusick : 6/4/1986
carol : 05/12/2021
carol : 05/11/2021
carol : 07/09/2016
mcolton : 2/12/2014
wwang : 1/10/2011
carol : 5/26/2009
carol : 8/27/2008
carol : 8/26/2008
ckniffin : 8/22/2008
carol : 10/1/2007
ckniffin : 9/27/2007
carol : 10/17/2003
carol : 5/1/2002
joanna : 3/28/2001
joanna : 3/28/2001
mimman : 2/8/1996
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carol : 3/4/1992
carol : 2/20/1992
carol : 10/18/1991
carol : 4/8/1991

# 253010

MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B


Alternative titles; symbols

MORQUIO SYNDROME B
MPS IVB


SNOMEDCT: 238044004;   ICD10CM: E76.211;   ORPHA: 309310, 582;   DO: 0111392;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
3p22.3 Mucopolysaccharidosis type IVB (Morquio) 253010 Autosomal recessive 3 GLB1 611458

TEXT

A number sign (#) is used with this entry because mucopolysaccharidosis type IVB (MPS4B; Morquio syndrome B) is caused by homozygous or compound heterozygous mutation in the gene encoding beta-galactosidase (GLB1; 611458) on chromosome 3p22.

Morquio syndrome B is allelic to the various forms of GM1-gangliosidosis (see, e.g., 230500). The latter disorders show central nervous system involvement.


Description

Mucopolysaccharidosis type IVB (MPS4B) is an autosomal recessive disorder characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal. There is increased urinary keratan sulfate excretion (Suzuki et al., 2001).

See mucopolysaccharidosis type IVA (MPS4A; 253000), also known as Morquio syndrome A, a genetically distinct disorder with overlapping clinical features caused by mutation in the GALNS gene (612222) on chromosome 16q24.

There may also be a nonkeratan sulfate-excreting form of Morquio syndrome, so-called type C (252300).


Clinical Features

O'Brien et al. (1976) reported a 14-year-old girl with spondyloepiphyseal dysplasia, corneal clouding, and beta-galactosidase deficiency. Radiographic features included flattening of the vertebral bodies and femoral heads, coxa valga, abnormal metacarpal epiphyses, and narrowed phalanges. Beta-galactosidase activity was less than 5% of normal and both unaffected parents had about 50% residual enzyme activity. She had no neurologic abnormalities, which distinguished the disorder from GM1-galactosidase types I and II (230500, 230600).

Arbisser et al. (1977) reported another 14-year-old girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, and increased urinary keratan sulfate, but no detectable central nervous system abnormalities. At age 9 years, she had shown kyphosis, swinging gait, and hip pain. The increased keratan sulfate suggested Morquio syndrome A, but galactosamine-6-sulfate sulfatase (GALNS) activity was normal, and beta-galactosidase activity was decreased. Conjunctival biopsy showed intracytoplasmic vacuoles typical of a lysosomal storage disease. The patient's mother showed an intermediate level of beta-galactosidase; the father was not available for study. Arbisser et al. (1977) postulated that the deficiency of beta-galactosidase in this patient was responsible for inadequate degradation of keratan sulfate and the appearance of a milder form of the Morquio syndrome. The authors suggested the designation Morquio syndrome B (MPS IVB) to differentiate it from classic Morquio syndrome A.

Spranger (1977) commented that the 'unusual' form of Morquio syndrome described by Dale (1931) was similar to that described by Arbisser et al. (1977) and thus likely represented beta-galactosidase deficiency. Spranger (1977) also noted that failure to detect heparan sulfate activity in some patients may be due to technical problems or residual enzyme activity.

Groebe et al. (1980) reported 2 cases of Morquio syndrome due to beta-galactosidase deficiency. That beta-galactosidase was indeed the primary defect was indicated by the absence of an endogenous inhibitor and by the intermediate enzyme levels in parents.

Van Gemund et al. (1983) reported 3 Dutch sibs, born of consanguineous parents, with Morquio syndrome B and beta-galactosidase deficiency. Clinical features included dysplastic hip joints, thoracolumbar kyphosis, protruding sternum, progressive short stature, and corneal opacities. Radiographic studies showed platyspondyly with abnormal vertebral bodies.

Beck et al. (1987) described 3 sibs with Morquio syndrome B. They had short trunk dwarfism, dysplasia of the pelvis, and epiphyseal abnormalities. Intelligence was normal. All had profound deficiency of beta-galactosidase activity in cultured fibroblasts.

Giugliani et al. (1987) described a brother-sister pair with clinical, radiologic, and enzymatic evidence of Morquio syndrome B but with atypical mental regression. There were also some atypical properties of the residual beta-galactosidase activity. Giugliani et al. (1987) suggested that these findings indicated that further heterogeneity can result from mutation at the beta-galactosidase locus.

Caciotti et al. (2021) reported 9 patients, aged 5 to 54 years, with MPS IVB. The major clinical features in this cohort included dysostosis multiplex, genu valgus, short stature, and mildly coarse facies. Other features included mild mitral and/or tricuspid regurgitation in 5 patients, corneal clouding in 2, and mild hepatosplenomegaly in 2. Brain MRI was reported in 5 patients, and 2 had a thin corpus callosum.


Biochemical Features

Van der Horst et al. (1983) showed that fibroblasts from patients with Morquio syndrome B contained normal numbers of beta-galactosidase molecules with a normal turnover, but strongly reduced catalytic activity per enzyme molecule. Abnormal affinity for several substrates was found, including no detectable affinity for keratan sulfate and oligosaccharides. In contrast, these affinities were normal for the beta-galactosidase in adult type GM1-gangliosidosis fibroblasts (230650). Cell hybridization studies demonstrated that MPS IVB and the infantile and adult forms of GM1-gangliosidosis belong to the same complementation group.

Caciotti et al. (2021) reported biochemical findings in 9 patients with MPS IVB. Total glycosaminoglycans were elevated in the urine of 3 of 7 patients. Qualitative glycosaminoglycan analysis in urine did not show elevated keratan sulfate in any of the patients, but LC-MS/MS analysis in urine of 7 patients showed elevated levels of keratan sulfate in all 7. Urine disulfated disaccharides were significantly higher in patients with Morquio syndrome type A (253000) compared to patients with MPS IVB, and both values were higher than in controls.


Molecular Genetics

In 3 patients with Morquio syndrome B, Oshima et al. (1991) identified 3 different compound heterozygous mutations in the GLB1 gene (611458.0009-611458.0011).

In a 15-year-old Japanese boy who presented with Morquio syndrome B, Ishii et al. (1995) found compound heterozygosity for 2 mutations in the GLB1 gene (Y83H, 611458.0015 and R482C, 611458.0016).

In a French patient with Morquio syndrome B phenotype, Paschke et al. (2001) identified compound heterozygosity for 2 mutations in the GLB1 gene: T500A (611458.0020) and Q408P (611458.0021).

Caciotti et al. (2021) reported the GLB1 mutations in 9 patients, including 2 sib pairs, with MPS IVB. The mutations were identified by Sanger sequencing of the gene. Heterozygosity for the W273L mutation (611458.0009) was identified in 7 patients. Three novel mutations were identified, including a splicing mutation (611458.0027) and 2 missense mutations, V677G (611458.0028) and Y192C. In 1 patient (patient 7), only a single mutation (W273L) was identified; however, a potential splicing defect excluding exons 2-7 was identified in this patient, leading Caciotti et al. (2021) to hypothesize that a deep intronic mutation was also present.


Genotype/Phenotype Correlations

Hinek et al. (2000) performed functional expression studies on several GLB1 mutations resulting in Morquio syndrome B (see, e.g., G438E, 611458.0018; T500A; W273L, 611458.0009; and R482H, 611458.0010). All of the mutations were located in the coding region common to the GLB1 lysosomal enzyme and its splice variant S-Gal/EBP (elastin-binding protein), and none of the mutant proteins expressed EBP. Functional studies indicated that the mutant proteins resulted in impaired secretion of tropoelastin and inability to assemble elastic fibers, resulting in impaired elastogenesis.


See Also:

Trojak et al. (1980)

REFERENCES

  1. Arbisser, A. I., Donnelly, K. A., Scott, C. I., Jr., DiFerrante, N. M., Singh, J., Stevenson, R. E., Aylsworth, A. S., Howell, R. R. Morquio-like syndrome with beta-galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysaccharidosis IV B. Am. J. Med. Genet. 1: 195-205, 1977. [PubMed: 416714] [Full Text: https://doi.org/10.1002/ajmg.1320010205]

  2. Beck, M., Petersen, E. M., Spranger, J., Beighton, P. Morquio's disease type B (beta-galactosidase deficiency) in three siblings. S. Afr. Med. J. 72: 704-707, 1987. [PubMed: 3120323]

  3. Caciotti, A., Cellai, L., Tonin, R., Mei, D., Procopio, E., Di Rocco, M., Andaloro, A., Antuzzi, D., Rampazzo, A., Rigoldi, M., Forni, G., la Marca, G., Guerrini, R., Morrone, A. Morquio B disease: from pathophysiology towards diagnosis. Molec. Genet. Metab. 132: 180-188, 2021. [PubMed: 33558080] [Full Text: https://doi.org/10.1016/j.ymgme.2021.01.008]

  4. Dale, T. Unusual form of familial osteochondrodystrophy. Acta Radiol. 12: 337-358, 1931.

  5. Giugliani, R., Jackson, M., Skinner, S. J., Vimal, C. M., Fensom, A. H., Fahmy, N., Sjovall, A., Benson, P. F. Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B). Clin. Genet. 32: 313-325, 1987. [PubMed: 3121219] [Full Text: https://doi.org/10.1111/j.1399-0004.1987.tb03296.x]

  6. Groebe, H., Krins, M., Schmidberger, H., von Figura, K., Harzer, K., Kresse, H., Paschke, E., Sewell, A., Ullrich, K. Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency: report of two cases. Am. J. Hum. Genet. 32: 258-272, 1980. [PubMed: 6446239]

  7. Hinek, A., Zhang, S., Smith, A. C., Callahan, J. W. Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. Am. J. Hum. Genet. 67: 23-36, 2000. [PubMed: 10841810] [Full Text: https://doi.org/10.1086/302968]

  8. Ishii, N., Oohira, T., Oshima, A., Sakuraba, H., Endo, F., Matsuda, I., Sukegawa, K., Orii, T., Suzuki, Y. Clinical and molecular analysis of a Japanese boy with Morquio B disease. Clin. Genet. 48: 103-108, 1995. [PubMed: 7586649] [Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb04065.x]

  9. O'Brien, J. S., Gugler, E., Giedion, A., Weismann, R., Herschkowitz, N., Meier, C., Leroy, J. G. Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency. Clin. Genet. 9: 495-504, 1976. [PubMed: 817853] [Full Text: https://doi.org/10.1111/j.1399-0004.1976.tb01603.x]

  10. Oshima, A., Yoshida, K., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Suzuki, Y. Human beta-galactosidase gene mutations in Morquio B disease. Am. J. Hum. Genet. 49: 1091-1093, 1991. [PubMed: 1928092]

  11. Paschke, E., Milos, I., Kreimer-Erlacher, H., Hoefler, G., Beck, M., Hoeltzenbein, M., Kleijer, W., Levade, T., Michelakakis, H., Radeva, B. 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. Hum. Genet. 109: 159-166, 2001. [PubMed: 11511921] [Full Text: https://doi.org/10.1007/s004390100570]

  12. Spranger, J. W. Beta-galactosidase and the Morquio syndrome. (Editorial) Am. J. Med. Genet. 1: 207-209, 1977. [PubMed: 416715] [Full Text: https://doi.org/10.1002/ajmg.1320010206]

  13. Suzuki, Y., Oshima, A., Nanba, E. Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.) New York: McGraw-Hill (pub.) 2001. Pp. 3775-3809.

  14. Trojak, J. E., Ho, C.-K., Roesel, R. A., Levin, L. S., Kopits, S. E., Thomas, G. H., Toma, S. Morquio-like syndrome (MPS IVB) associated with deficiency of beta-galactosidase. Johns Hopkins Med. J. 146: 75-79, 1980. [PubMed: 6766519]

  15. van der Horst, G. T. J., Kleijer, W. J., Hoogeveen, A. T., Huijmans, J. G. M., Blom, W., van Diggelen, O. P. Morquio B syndrome: a primary defect in beta-galactosidase. Am. J. Med. Genet. 16: 261-275, 1983. [PubMed: 6418007] [Full Text: https://doi.org/10.1002/ajmg.1320160215]

  16. van Gemund, J. J., Giesberts, M. A. H., Eerdmans, R. F., Blom, W., Kleijer, W. J. Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency: report of three cases in one family. Hum. Genet. 64: 50-54, 1983. [PubMed: 6409799] [Full Text: https://doi.org/10.1007/BF00289478]


Contributors:
Hilary J. Vernon - updated : 05/11/2021
Cassandra L. Kniffin - reorganized : 10/1/2007
Cassandra L. Kniffin - updated : 9/27/2007

Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
carol : 05/12/2021
carol : 05/11/2021
carol : 07/09/2016
mcolton : 2/12/2014
wwang : 1/10/2011
carol : 5/26/2009
carol : 8/27/2008
carol : 8/26/2008
ckniffin : 8/22/2008
carol : 10/1/2007
ckniffin : 9/27/2007
carol : 10/17/2003
carol : 5/1/2002
joanna : 3/28/2001
joanna : 3/28/2001
mimman : 2/8/1996
terry : 5/7/1994
supermim : 3/17/1992
carol : 3/4/1992
carol : 2/20/1992
carol : 10/18/1991
carol : 4/8/1991