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Mucolipidosis with β-Galactosidase Deficiency: a Type of Sialidosis

✍ Scribed by Shintaro Okada; Tohru Yutaka; Tomochika Kato; Koji Inui; Hyakuji Yabuuchi; Masanori Nishigaki; Katsuko Yamashita; Hideaki Chiyo; Jun-ichi Furuyama; Yoshio Okada

Book ID
118710686
Publisher
John Wiley and Sons
Year
1981
Tongue
English
Weight
387 KB
Volume
23
Category
Article
ISSN
1328-8067

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A severe infantile sialidosis (β-galacto
A severe infantile sialidosis (β-galactosidase-α-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1
✍ S. Okada; H. Sugino; T. Kato; T. Yutaka; M. Koike; T. Dezawa; T. Yamano; H. Yabu 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 957 KB

We observed a 3-month-old Japanese female infant with severe psychomotor retardation, coarse facial appearance, hepatosplenomegaly, and dysostosis multiplex. Only beta-galactosidase was found to be deficient when the routine lysosomal hydrolase assay was performed on the patient's lymphocytes at 6 m