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Abstract The knowledge of cutaneous symptoms of metabolic diseases help to understand and diagnose metabolic diseases. Sometimes the cutaneous sign is like a bookmark for the metabolic disorder. In other cases, the skin reflects complications of the disease or adverse side effects of treatment Skin lesions of several types occur in metabolic diseases in children and the principal group of lesions can be grouped in four main groups: 1. Vesicolobullus lesions. 2. Photosensitivity skin rashes and discolourations. 3. Hyperkeratosis and ichthyosis. 4. Skin ulceration, skin nodules, and hyperlaxity. However, this review classified the description of skin lesions using a systematic criteria based on the main metabolic agent that is involved by the genetic defect (porphyria, aminoacidopathy, etc). Inborn errors of metabolism often require diet changes, with the type and extent of the changes dependant on the specific metabolic disorder. Registered dietitians and physicians can help an individual assess the diet changes needed for each disease. The principle of ERT is to replace specific defective enzymes in lysosomal storage diseases (LSD) patients with in vitro synthesized functional enzymes. ERT products are administered by intravenous infusion, dosages determined by patient body weight, usually every other week, for the life of the patient. Hematopoietic stem cell transplantation procedure must be the preservation of an acceptable and meaningful quality of life rather than engrafted survival only. Some disorders are apparently more sensitive to transplantation than others. Hurler syndrome responds to transplantation, but Hunter syndrome (MPSII), a clinically similar disorder that responds similarly in vitro to cross-correcting exogenous enzyme treatment, responds poorly to HSCT. Children who receive transplantations at a young age will do better than those undergoing the procedure at older ages. |