title: Intrafamilial variability in lysosomal storage diseases.
abstract: In most lysosomal storage diseases clinical variability is found and affects age-of-onset, severity, and the degree of neurological involvement. Very often the variability is due to the existence of different mutations leading to the same enzyme deficiency. In most of the families with more than one person affected, the clinical picture is very similar. Intrafamilial variation has been reported in the lysosomal storage diseases related or not related to genetic heterogeneity. In families in which different affected persons have the same genotype, as in X-linked disorders, or autosomal recessive diseases in which both parents of the affected sibs are carriers and healthy, the variability must be due to factors not related to the genotype. On the other hand, when different mutations are present in the same family, the variability may be related to the differences in the genotype of the affected persons. Knowledge of the possibility of intrafamilial variability and its genetic basis is essential in clinical and prenatal diagnosis of the lysosomal storage diseases.
mesh_terms: D003937:Diagnosis, Differential; D005808:Genes, Recessive; D005817:Genetic Counseling; D014644:Genetic Variation; D006801:Humans; D006867:Hydrolases / Q000172:deficiency* / Q000235:genetics; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics; D008247:Lysosomes / Q000201:enzymology*; D009083:Mucopolysaccharidoses / Q000145:classification* / Q000201:enzymology / Q000235:genetics; D009084:Mucopolysaccharidosis III / Q000201:enzymology / Q000235:genetics; D013661:Tay-Sachs Disease / Q000201:enzymology / Q000235:genetics
chemical_list: D006867:Hydrolases