Inherited Metabolic Diseases are common enough for health, social service and education professionals to encounter them periodically, but rare enough for them to be poorly understood. They severely affect up to 1 in 10,000 people, and lead to a wide range of special needs in care and education. This guide provides specialist information on metabolic diseases for the non-specialist. In a concise, accessible and family-friendly format, each entry lists the names by which a condition is known, and explains the genetic causes of the disease, the physical effects, the patient's symptoms, and available treatments. Key diseases from all ten major groups of metabolic disorders are described, and all entries have been reviewed by Specialist Advisers. The work has been coordinated by the charity Climb, Children Living with Inherited Metabolic Diseases. This uniquely comprehensive source of information is a vital reference for hospital doctors including paediatricians, general practitioners, nurses and other health professionals, social service and education staff and managers, and the families and carers of children with the conditions.
Table of Contents
Amino acid and urea cycle disorders. Organic acid disorders and disorders of fatty acid oxidation. Mitochondrial and peroxisomal disorders. Lysosomal, sterol and lipid disorders. Carbohydrate and glycosylation disorders. Purine, pyrimidine and porphyria disorders. Hormone disorders. Musculoskeletal disorders and connective tissue disorders. Blood and immune system disorders. Associated disorders.