ABSTRACT
Metabolic diseases are a diverse, complex group of disorders that includes mucopolysaccharidoses (MPS), leukodystrophies, glycoprotein metabolic disorders, and such miscellaneous diseases as neuronal ceroid lipofuscinosis (NCL), Niemann-Pick, mucolipidoses, gangliosidoses, Wolman syndrome, Farber lipogranulomatosis, and osteopetrosis. Individually, many of these disorders are considered rare, although high prevalence rates have been reported in some populations (1). Most of these genetic disorders arise from a deficiency of a specific hydrolytic enzyme found in or associated with the lysosome leading to the term lysosomal storage disorder. X-linked adrenoleukodystrophy (X-ALD) is likely a peroxisomal disorder. Osteopetrosis arises from defective osteoclast function. Following this introduction, a general overview of hematopoietic stem cell transplantation (HSCT) will be presented with attention to metabolic disease issues. Disease-specific discussions will follow. Finally, developing therapies and novel approaches will be described for this rapidly evolving field of medicine.
Lysosomes and Peroxisomes
