Mucolipidosis I — A sialidosis

6533b834fe1ef96bd129cdd4

RESEARCH PRODUCT

Mucolipidosis I — A sialidosis

J. Gehler Michael Cantz J. M. Opitz Jürgen W. Spranger

subject

Male medicine.medical_specialty Hydrolases Neuraminidase Sialidase Myelin Mucolipidoses Internal medicine medicine Humans Sialidosis Child Cells Cultured Genetics (clinical)Skin biology Mucolipidosis Catabolism Neurodegeneration medicine.disease Phenotype Endocrinology medicine.anatomical_structure Dysplasia Child Preschool Immunology Sialic Acids biology.protein Lysosomes Neuraminidase Follow-Up Studies

description

Mucolipidosis I is characterized by Hurler-like features and skeletal dysplasia with a cherry-red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid-containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an alpha-N-acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase.

year	journal	country	edition	language
1977-01-01	American Journal of Medical Genetics

https://doi.org/10.1002/ajmg.1320010104

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