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Metabolic disorder is caused by a gene defect, environmental factors or an unknown aetiology. Altered metabolism caused by these factors affects normal function of various organs including the brain and may lead to abnormal phenotype. This book reveals what factors contribute in lysosomal storage diseases, Phenylketonuria and Canavan disease.

Metabolic disorder caused by altered levels of metabolism resulting pathophysiological abnormalities often leads to childhood death. Several new developments on metabolic diseases research have been emerging. Gaucher disease is a lysosomal storage disorder caused by glucocerebrosidase gene mutations resulting glucocerebrosidase deficiency. Current studies show that the same gene mutations also contribute to the Parkinson's disease. Tetrahydrobiopterin (BH4) has been widely used in treating patients with Phenylketonuria over a decade. Recent studies reveal that patients treated with BH4 over...