The laboratory diagnosis of Sanfilippo disease
| Autor: | Elisabeth Young, Paul Whiteman |
|---|---|
| Rok vydání: | 1977 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Sulphamidase Adolescent Mucopolysaccharidosis Sanfilippo B Clinical Biochemistry Disease Biology Biochemistry Excretion Diagnosis Differential Mucopolysaccharidosis III Urinary excretion Acetylglucosaminidase medicine Leukocytes Humans Child Glycosaminoglycans Sanfilippo disease Biochemistry (medical) Infant Newborn Infant General Medicine Heparin Clinical Enzyme Tests Fibroblasts Mucopolysaccharidoses medicine.disease Child Preschool Female Heparitin Sulfate Sulfatases medicine.drug |
| Zdroj: | Clinica chimica acta; international journal of clinical chemistry. 76(1) |
| ISSN: | 0009-8981 |
| Popis: | The biochemical findings in 29 patients with Sanfilippo disease are reported and a scheme for laboratory diagnosis is outlined. A grossly elevated urinary excretion of heparan sulphate was a consistent and diagnostic finding, even at birth. The excretion of heparan sulphate and chondroitin sulphate was quantitatively similar in types A and B of the condition. Modifications of previously described methods for the determination of heparin sulphamidase in leucocytes or skin fibroblasts and N-acetyl-α-D-glucosaminidase in plasma or fibroblasts facilitated the measurement of specific activities. Sanfilippo A disease appeared to be the commonest mucopolysaccharidosis occurring in England and Sanfilippo B disease, one of the rarest forms. |
| Databáze: | OpenAIRE |
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