Sialidase (α‐N‐acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry‐red spots and myoclonus without dementia
- 23 April 1978
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 13 (4), 369-379
- https://doi.org/10.1111/j.1399-0004.1978.tb01194.x
Abstract
A 31-year-old male is described who has macular cherry-red spots, increased deep tendon reflexes and and myoclonus without dementia. An older brother died at age 33 of a disease with similar symptomatology. Homogenates of cultured fibroblasts from the patient exhibited 2.6, 8.1 and 12.4% of normal mean sialidase (neuraminidase, N-acetyl-neuraminosyl glycohydrolase, EC 3.21.18) activity, respectively, against 2-(3'-methoxyphenyl)-N-acetyl-alpha-neuraminic acid, N-acetyl-neuramin-lactose and fetuin. Activities of 14 other lysosomal enzymes were within the range of normal control fibroblasts. The sialidase activities in fibroblasts from the patient's parents and children were 30 to 67% of normal. It is concluded that this is the first proven case of a new autosomal recessive disorder resulting in cherry-red spots, myoclonus and a sialidase deficiency.Keywords
This publication has 34 references indexed in Scilit:
- Electrophysiological Studies in Two Patients with Cherry Red Spot‐Myoclonus SyndromeEpilepsia, 1977
- Isolated acid neuraminidase deficiency: A distinct lysosomal storage diseaseAmerican Journal of Medical Genetics, 1977
- Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: “I cell disease” and two new types of mucolipidosisBiochimica et Biophysica Acta (BBA) - General Subjects, 1976
- Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblastsBiochemical and Biophysical Research Communications, 1976
- Molecular genetics of GM1β‐galactosidaseClinical Genetics, 1975
- Mucolipidosis III (pseudo‐Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cellsClinical Genetics, 1973
- A New Type of Mucolipidosis with β-Galactosidase Deficiency and GlycopeptiduriaThe Tohoku Journal of Experimental Medicine, 1972
- Macular cherry-red spot, corneal clouding, and -galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage diseaseArchives of Internal Medicine, 1971
- CLINICAL, ELECTROENCEPHALOGRAPHICAL AND NEUROPHARMACOLOGICAL STUDIES IN SYNDROMES OF PROGRESSIVE MYOCLONUS EPILEPSYActa Neurologica Scandinavica, 1970
- Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome.British Journal of Ophthalmology, 1966