A case of neuraminidase deficiency associated with a partial beta-galactosidase defect. Clinical, biochemical and radiological studies.

Abstract

Neuraminidase deficiency towards fetuin, 2 leads to 3 sialyllactose and 2 leads to 6 sialyllactose was found in cultured skin fibroblasts from a 10-year-old Japanese girl who exhibits craniofacial dysmorphism, a short neck, vertebral and pelvic deformities and macular cherry-red spots. Neuraminidase deficiency in this case seems the primary enzyme defect because the enzyme activity of her parents was intermediate. In addition, beta-galactosidase in leukocytes and cultured skin fibroblasts from the patient was found to be severely deficient, but could be detected in serum and urine. In the parents, beta-galactosidase activity was normal. There were moderately increased levels of urinary sialic acid-rich oligosaccharides and glycopeptides in the patient. The clinical and biochemical observations suggest that this case is very close to mucolipidosis I.

• Authors: S Okada, T Yutaka, T Kato, C Ikehara, H Yabuuchi, M Okawa, M Inui, H Chiyo
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 130 Issue 4 Pg. 239-49 (Apr 03 1979) ISSN: 0340-6199 [Print] Germany
• PMID: 436849 (Publication Type: Case Reports, Journal Article)

Chemical References

• Neuraminidase

Topics

• Cells, Cultured (enzymology)
• Child
• Female
• Fibroblasts (enzymology)
• Humans
• Lactose Intolerance (complications)
• Leukocytes (enzymology)
• Mucolipidoses (complications, diagnosis)
• Neuraminidase (deficiency)