Inherited Metabolic Diseases: Research, Epidemiology and Statistics, Research, Epidemiology and Statistics

by Steve Hannigan, Steve Field

Overview

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.

Product Details

ISBN-13:	9781315347271
Publisher:	CRC Press
Publication date:	04/19/2018
Sold by:	Barnes & Noble
Format:	eBook
Pages:	184
File size:	416 KB

About the Author

Steve Hannigan, Steve Field

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.

Editorial Reviews

Reviewer: Harley Ginsberg, M.D.(Ochsner Clinic Foundation)
Description: This British text is the first in a series of seven books presenting the metabolic and genetic basis for 100 inborn errors of metabolism. The editor is the current Executive Director of Climb (Children Living with Inherited Metabolic Diseases), a charity that is supported by all profits from this work.
Purpose: The editor describes this "as a guide for anyone affected by or working with metabolic diseases." It is his opinion that through a publication such as this, people will be helped to understand "in a family-friendly way, what the particular disease involves." The book fulfills this objective in varying fashion as each disease entity is addressed by a different author.
Audience: The recommended audience, according to the editor, includes "paediatricians, general practitioners, nurses, and other health professionals, social service, educational staff, and the families and carers of children with the conditions." Although this guide is written at a level that may be suitable for healthcare professionals, it is unrealistic to believe that a family member would be interested in purchasing this book in order to obtain the 1-2 pages of information that relate to their specific patient. Instead, this information would likely be provided to the family through their personal source of healthcare.
Features: The format is uniform for each of the metabolic diseases. The 10 chapters group diseases into categories such as amino acid, organic acid, or mitochondrial disorders. Each disease entity is then condensed into a 1 or 2 page presentation. There are no pictures, photomicrographs or enzymatic algorithms. Each section begins with a list of disease synonyms for the condition followed by the mode of inheritance. Symptoms and treatments (if available) then conclude each description.
Assessment: This book provides a brief synopsis of 100 inborn errors of metabolism that pediatricians and family practitioners may rarely encounter in their practice. The book offers a superficial overview of each malady with limited detail. As a reference for an office nurse, this publication will serve nicely, but there are other more detailed publications available for physicians such as Blau et al.'s Physician's Guide to the Treatment and Follow-up of Metabolic Diseases (Springer, 2006).

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