PHYSICIANÿS GUIDE TO THE LABORATORY DIAGNOSIS OF INHERITED METABOLIC DISEASES
N Blau, Division of Clinical Chemistry, University Children's Hospital, Zurich, Switzerland,
M Duran, University Childrenÿs Hospital, Utrecht, Netherlands, and
M Blaskovics, Regional Metabolic Lab., Kaiser Permanente, N. Hollywood, California, USA
FOREWORD by Dr Charles R Scriver
The diagnosis of metabolic diseases has two approaches: a clinical one based on signs and symptoms, and a laboratory one based on the absence or presence of a specific metabolite - the consequence of defective enzyme activity. Delay and mistakes in diagnosis have devastating consequences but are often due to the difficulty in locating reference data and clinical descriptions of rare conditions.
This book describes 266 metabolic disorders, grouped into 29 chapters according to the type of condition. Within each group, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included.
There are three indexes to make the book as user-friendly as possible. The Disorders Index (40I entries), the Tests Index (398 entries), and the Signs and Symptoms Index (471 entries) . All physicians who see patients with metabolic diseases will find this Guide to be a unique diagnostic aid.
Contents: How to use this book; Abbreviations; APPROACH TO DIAGNOSIS Simple tests in urine and blood - Blau, Duran, Blaskovics; Amino acid analysis - Shih; Organic acid analysis - Hoffmann; Miscellaneous analyses - Duran; DISORDERS Hyperphenylalaninemia - Blau, Blaskovics; Disorders of neurotransmitter metabolism - Hyland et al; GABA metabolism defects - Jaeken; Tyrosinemia - Berger; Disorders of histidine metabolism - Kuroda, Ito; Disorders of leucine metabolism - Gibson et al; Disorders of valine - isole
ucine metabolism - Nyhan; Various organic acidurias - Jakobs et al; Disorders of the gamma glutamyl cycle - Meister; Larsson ; Disorders of sulfur amino acids - Skovby; Disorders of glycine and imino acids - Tada; Inherited hyperammonemia - Tuchman ; Disorders of ornithine, lysine and tryptophan - Przyrembel; Amino acid transport disorders - Brodehl; Disorders of mitochondrial beta oxidation of fatty acids - Duran ; Disorders of carbohydrate and glycogen metabolism - Roe, Ng; Disorders of glycerol metaboli
sm - McCabe; Mucopolysaccharidoses - Ullrich, Kresse; Oligosaccharidoses and related disorders - Andria, Parenti; Lysosomal transport defects - Thoene; Purine and pyrimidine disorders - Simmonds; Peroxisomal disorders - Wanders et al; Hyperoxaluria - Byrd, Latta; Mitochondrial energy metabolism - Ruitenbeek et al; Genetic dyslipoproteinemias - Rader; Disorders of steroid metabolism - Biason-Lauber, Zachmann; The porphyrias - Anderson; Disorders of bile acid synthesis - Clayton; Disorders of copper and zin
c metabolism - Baerlocher. DISORDERS INDEX; SIGNS AND SYMPTOMS INDEX; TESTS INDEX.
Published in June l996; paperback; 552 pages; 246 x 189mm; c ÿ65. Chapman & Hall Medical
For order form contact: Dr. Peter Altman, Medical Publisher, Chapman & Hall, 2-6- Boundary Row, London SE1 8HN, UK, Fax: +44 171 522 9624, e-mail: peter.altman at chall.co.uk
