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  • Title: [Phenotypes in heteroglycanoses and sphingolipidoses (author's transl)].
    Author: Gehler J.
    Journal: Monatsschr Kinderheilkd; 1981 Nov; 129(11):610-20. PubMed ID: 6798422.
    Abstract:
    Sphingolipidoses and heteroglycanoses are inborn errors of the carbohydrate metabolism. Biochemically and clinically hetero-glycanoses are sub-divided into mucopolysaccharidoses, oligosaccharidoses and mucolipidoses. These disorders of complex carbohydrate metabolism are due to the inborn defect of one or more lysosomal enzymes which in turn cause an intracellular accumulation of not-degraded complex carbohydrates corresponding to a wide pattern of clinical expression and symptomatology ranging from psychomotor retardation without any dysmorphic signs to severe features of a storage disease with dwarfism, peculiar facial appearance, organomegaly and skeletal changes. Investigations of recent years revealed that there is tremendous phenotypic variation even within diseases caused by a deficiency of the same enzyme. On the other hand, clinically indistinguishable phenotypes may be caused by the defect of different enzymes.
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