Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

A unique source of reference information for both laboratory and clinical practice

Highlights clinical findings, age-related pathological values for diagnostic metabolites, and the role of biochemical genetic testing

Offers step-by-step algorithms for diagnosis

Outlines established and experimental therapies

Complements other major texts in the field

This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.