Clin Genet. 1978 Mar;13(3):305-13.

Beta-galactosidase deficiency: prolonged survival in three patients following early central nervous system deterioration.

Abstract

Three adult patients from two families have shown slowly progressive neurologic deterioration since the age of 3 years, associated with profound beta-galactosidase deficiency. Although affected individuals from the two different families differ in degree of intellectual deficit, facial coarseness and spondyloepiphyseal dysplasia, all lack visceromegaly and macular red spots. The diversity of phenotypic expression in these patients and others previously reported suggests the existence of composite genotypes (compound and double heterozygosity).

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Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family. [Hum Genet. 1983]
Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family.
van Gemund JJ, Giesberts MA, Eerdmans RF, Blom W, Kleijer WJ. Hum Genet. 1983; 64(1):50-4.
Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency. [Clin Genet. 1976]
Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.
O'Brien JS, Gugler E, Giedion A, Wiessmann U, Herschkowitz N, Meier C, Leroy J. Clin Genet. 1976 May; 9(5):495-504.
Morquio-like syndrome (MPS IV B) associated with deficiency of a beta-galactosidase. [Johns Hopkins Med J. 1980]
Morquio-like syndrome (MPS IV B) associated with deficiency of a beta-galactosidase.
Trojak JE, Ho CK, Roesel RA, Levin LS, Kopits SE, Thomas GH, Toma S. Johns Hopkins Med J. 1980 Feb; 146(2):75-9.
Review [Morquio syndrome, beta-galactosidase deficiency]. [Ryoikibetsu Shokogun Shirizu. ...]
Review [Morquio syndrome, beta-galactosidase deficiency].
Matsushita Y, Kuroiwa Y. Ryoikibetsu Shokogun Shirizu. 2000; (29 Pt 4):466-7.
Review Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. [Biochim Biophys Acta. 1999]
Review Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
Callahan JW. Biochim Biophys Acta. 1999 Oct 8; 1455(2-3):85-103.

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Cited by 1 PubMed Central article

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. [Am J Hum Genet. 1991]
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y. Am J Hum Genet. 1991 Aug; 49(2):435-42.

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Beta-galactosidase deficiency: prolonged survival in three patients following early central nervous system deterioration.

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