Glycosaminoglycan storage begins in prenatal life in patients with mucopolysaccharidosis (MPS). In fact, prenatal hydrops is a common manifestation of MPS VII because of beta-glucuronidase (GUS) deficiency. One way to address prenatal storage might be to deliver the missing enzyme across the placenta into the fetal circulation. Maternal IgG is transported across the placenta by the neonatal Fc ...

UNLABELLED Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, including renal, cardiac, eye, and nervous system manifestations. AIM To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients wi...

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anderson-fabry disease is a rare inherited x-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase a. hereby we report a 39 year old male that presented with proteinuria and edema. histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor  of  fabry disease in associate with iga nephropathy. fabry's disease associated wit...

The neuronal ceroid lipofuscinoses (NCLs, also known collectively as Batten disease) are a group of lysosomal storage disorders characterized by the accumulation of autofluorescent storage material in the brain and other tissues. A number of genes underlying various forms of NCL have been cloned, but the basis for the neurodegeneration in any of these is unknown. High levels of dolichol pyropho...

We present a rare case of Tay-Sachs disease with retinal 'cherry-red spots' in a 19-month-old Malay child. Molecular genetic studies confirmed the diagnosis. The case highlights that 'cherry-red spot' is a useful clinical clue in Tay-Sachs disease and several other lysosomal storage disorders. It serves as an ideal illustration of the eye as a window to inborn error of metabolism.

Lysosomal storage diseases comprise a group of about 40 disorders, which in most cases are due to the deficiency of a lysosomal enzyme. Since lysosomal enzymes are involved in the degradation of various compounds, the diseases can be further subdivided according to which pathway is affected. Thus, enzyme deficiencies in the degradation pathway of glycosaminoglycans cause mucopolysaccharidosis, ...

Among the estimated 20,000 to 40,000 human gene pairs (1) approximately 2000 single-gene alterations are now recognized (2). A specific protein alteration has been established or suggested for about 10% of these mutations (3). Most lysosomal storage disorders fall into this class of inherited metabolic disorders. The sphingolipidoses represent those lysosomal storage disorders in which the pred...

α-Mannosidosis is a lysosomal storage disorder that is caused by the deficiency of lysosomal α-mannosidase. Feline αmannosidosis is a well-characterized animal model used for studying pathological and therapeutic aspects of lysosomal storage disorders. We here report the purification of feline liver lysosomal α-mannosidase and determination of its cDNA sequence. The active enzyme consisted of t...

Drugs often use endocytosis to achieve intracellular delivery, either by passive uptake from the extracellular fluid or by active targeting of cell surface features such as endocytic receptors. An example is enzyme replacement therapy, a clinically practiced treatment for several lysosomal storage diseases where glycosylated recombinant enzymes naturally target the mannose-6-phosphate receptor ...