Abstract
Corneal clouding is added to the list of clinical and chemical abnormalities which occur both in GM1-generalized gangliosidosis and in Hurler's syndrome (and some other mucopolysaccharidoses). The parents of our patient were first cousin Yemeni and had partial beta-galactosidase deficiency in their leucocytes and cultured fibroblasts.
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Selected References
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- Attal C., Farkas-Bargeton E., Edgar G. W., Pham-Huu-Trung, Girard F., Mozziconacci P. Idiotie ameurotique infantile familiale avec surcharge viscérale. Ann Pediatr (Paris) 1967 Jun-Jul;14(6):457–465. [PubMed] [Google Scholar]
- BRANTE G. Gargoylism; a mucopolysaccharidosis. Scand J Clin Lab Invest. 1952;4(1):43–46. doi: 10.3109/00365515209060631. [DOI] [PubMed] [Google Scholar]
- Babarik A., Benson P. F., Dean M. F., Muir H. Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency. Lancet. 1974 Aug 24;2(7878):464–465. doi: 10.1016/s0140-6736(74)91846-7. [DOI] [PubMed] [Google Scholar]
- Bach G., Eisenberg F., Jr, Cantz M., Neufeld E. F. The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci U S A. 1973 Jul;70(7):2134–2138. doi: 10.1073/pnas.70.7.2134. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Bach G., Friedman R., Weissmann B., Neufeld E. F. The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase. Proc Natl Acad Sci U S A. 1972 Aug;69(8):2048–2051. doi: 10.1073/pnas.69.8.2048. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Benson P. F., Barbarik A., Brown S. P., Mann T. P. GM1-generalized gangliosidosis variant with cardiomegaly. Postgrad Med J. 1976 Mar;52(605):159–165. doi: 10.1136/pgmj.52.605.159. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Borri P. F., Hooghwinkel G. J., Edgar G. W. Brain ganglioside pattern in three forms of amaurotic idiocy and in gargoylism. J Neurochem. 1966 Nov;13(11):1249–1256. doi: 10.1111/j.1471-4159.1966.tb04284.x. [DOI] [PubMed] [Google Scholar]
- Di Ferrante N. M. The measurement of urinary mucopolysaccharides. Anal Biochem. 1967 Oct;21(1):98–106. doi: 10.1016/0003-2697(67)90087-5. [DOI] [PubMed] [Google Scholar]
- Emery J. M., Green W. R., Wyllie R. G., Howell R. R. GM1-gangliosidosis. Ocular and pathological manifestations. Arch Ophthalmol. 1971 Feb;85(2):177–187. doi: 10.1001/archopht.1971.00990050179011. [DOI] [PubMed] [Google Scholar]
- GONATAS N. K., GONATAS J. ULTRASTRUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY-SACHS DISEASE AND GARGOYLISM. J Neuropathol Exp Neurol. 1965 Apr;24:318–340. doi: 10.1097/00005072-196504000-00011. [DOI] [PubMed] [Google Scholar]
- Hultberg B., Ockerman P. A. Properties of 4-methylumbelliferyl-beta-galactosidase activities in human liver. Scand J Clin Lab Invest. 1969 May;23(3):213–217. doi: 10.3109/00365516909077651. [DOI] [PubMed] [Google Scholar]
- LANDING B. H., SILVERMAN F. N., CRAIG J. M., JACOBY M. D., LAHEY M. E., CHADWICK D. L. FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT". Am J Dis Child. 1964 Nov;108:503–522. [PubMed] [Google Scholar]
- LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
- Matalon R., Dorfman A. Hurler's syndrome, an -L-iduronidase deficiency. Biochem Biophys Res Commun. 1972 May 26;47(4):959–964. doi: 10.1016/0006-291x(72)90586-4. [DOI] [PubMed] [Google Scholar]
- Merin S., Livni N., Berman E. R., Yatziv S. Mucolipidosis IV: ocular, systemic, and ultrastructural findings. Invest Ophthalmol. 1975 Jun;14(6):437–448. [PubMed] [Google Scholar]
- NORMAN R. M., URICH H., TINGEY A. H., GOODBODY R. A. Tay-Sachs' disease with visceral involvement and its relationship to Niemann-Pick's disease. J Pathol Bacteriol. 1959 Oct;78:409–421. doi: 10.1002/path.1700780208. [DOI] [PubMed] [Google Scholar]
- O'BRIEN J. S., STERN M. B., LANDING B. H., O'BRIEN J. K., DONNELL G. N. GENERALIZED GANGLIOSIDOSIS: ANOTHER INBORN ERROR OF GANGLIOSIDE METABOLISM? Am J Dis Child. 1965 Apr;109:338–346. [PubMed] [Google Scholar]
- O'Brien J. Generalized gangliosidosis. J Pediatr. 1969 Aug;75(2):167–186. doi: 10.1016/s0022-3476(69)80387-2. [DOI] [PubMed] [Google Scholar]
- Okada S., O'Brien J. S. Generalized gangliosidosis: beta-galactosidase deficiency. Science. 1968 May 31;160(3831):1002–1004. doi: 10.1126/science.160.3831.1002. [DOI] [PubMed] [Google Scholar]
- SCHEIE H. G., HAMBRICK G. W., Jr, BARNESS L. A. A newly recognized forme fruste of Hurler's disease (gargoylism). Am J Ophthalmol. 1962 May;53:753–769. [PubMed] [Google Scholar]
- Scott C. R., Lagunoff D., Trump B. F. Familial neurovisceral lipidosis. J Pediatr. 1967 Sep;71(3):357–366. doi: 10.1016/s0022-3476(67)80295-6. [DOI] [PubMed] [Google Scholar]
- Singer H. S., Nankervis G. A., Schafer I. A. Leukocyte beta-galactosidase activity in the diagnosis of generalized GM 1 gangliosidosis. Pediatrics. 1972 Mar;49(3):352–361. [PubMed] [Google Scholar]
- Suzuki K., Rapin I., Suzuki Y., Ishii N. Juvenile GM2-gangliosidosis. Clinical variant of Tay-Sachs disease or a new disease. Neurology. 1970 Feb;20(2):190–204. doi: 10.1212/wnl.20.2.190. [DOI] [PubMed] [Google Scholar]
