Lysosomes disorders associated with defects

Hypertrophic cardiomyopathy, a thick, rigid cardiac muscle, is also seen in inborn errors, with some overlap with disorders associated with a dilated phenotype. This includes carnitine deficiency, primary respiratory chain defects, Barth syndrome, several glycogenoses (e.g., GSD III, rv, and IX), and lysosomal storage disorders. In lysosomal storage disease the valves are typically more affected than the muscle itself. In the neonate there should be high suspicion for GSD type... 

Genetic defects in the degradation of glycoproteins are representative of lysosomal storage disorders. Each disease is caused by a deficiency of a lysosomal hydrolase, accumulation and urinary excretion of substrates, a progressive clinical course and considerable phenotypic variation. These disorders also manifest the clinical symptoms normally associated with genetic mucopolysaccharidoses, namely coarse facies, dysostosis multiplex and/or ocular involvement. 

F-1) The mucopolysaccharidoses are proteoglycan disorders that generally result from a hereditary lysosomal defect in enzymes that normally degrade mucopolysaccharides (in most cases heparan sulfate and dermatan sulfate). This leads to the accumulation of different mucopolysaccharides, which may be associated with a variety of different findings, commonly including mental retardation and various skeletal abnormalities. These diseases include Hunter disease, Hurler and Scheie disease, I-cell disease , Maroteaux-Laury disease, Morquio syndrome, Mucolipidoses VH disease, multiple sulfatase deficiency, and Sanfilippo A and B diseases, which will not be elaborated on further here. Often these conditions can be detected in advance on amniocentesis. 

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