Textbook - BIOLOGICAL CHEMISTRY - Gubsky Yu.I. - 2000

Chapter III. METABOLISM OF MAJOR CLASSES OF BIOMOLECULES

CHAPTER 13. CARBOHYDRATE METABOLISM. III. GLYCOGEN AND GLYCOCONJUGATE METABOLISM

13.5. GLYCOSIDOSES. GENETIC DISORDERS OF GLYCOSAMINOGLYCAN METABOLISM

Glycosidoses are Genetic Disorders OF heteropolysaccharide METABOLISM involving the Structural components of Proteoglycans and Glycolipids. Glycosidoses associated with an inherited deficiency of Enzymes responsible for the degradation of carbohydrate components in proteoglycans are termed Mucopolysaccharidoses, whereas those involving glycolipids are known as glycolipidoses (or mucolipidoses and sphingolipidoses).

Glycosidoses, and mucopolysaccharidoses in particular, are severe conditions characterized by profound Connective Tissue disorders affecting many Internal Organs. These manifest as corneal clouding, skeletal and joint abnormalities, delayed childhood development, and a shortened life span. Elevated urinary excretion of specific glycosaminoglycans is of diagnostic significance.

The Biochemical characteristics of the most common human mucopolysaccharidoses (MPS), which are Inherited Disorders of glycosaminoglycan Catabolism, are presented in Table 13.3.

Class="center">Table 13.3. Biochemical characteristics of mucopolysaccharidoses (adapted from R. Berkow (Ed.): The Merck Manual of Diagnosis and Therapy, 1992, with modifications)

MPS type

Disease name

Enzyme deficiency

Urinary glycosaminoglycans

MPS I*

Hurler syndrome

Scheie syndrome

Hurler-Scheie syndrome

α-L-iduronidase

Dermatan sulfate, heparan sulfate

MPS II

Hunter syndrome

Iduronate sulfatase

Dermatan sulfate, heparan sulfate

MPS III

Sanfilippo syndrome

Heparan N-sulfatase

Heparan sulfate

MPS IV

Morquio syndrome

IVA Morquio syndrome type A

IVB Morquio syndrome type B

N-acetylgalactosamine-6-sulfatase

β-galactosidase

Keratan sulfate

Keratan sulfate

MPS VI

Maroteaux-Lamy syndrome

Arylsulfatase B

Dermatan sulfate

MPS VII

β-glucuronidase deficiency

β-Glucuronidase

Dermatan sulfate

Note: * forms IH, IS, and IH/S exist.

The catabolism of glycolipids and the molecular mechanisms underlying glycolipidoses will be discussed in Chapter 15.



Last update: 06/08/2026

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