DESCRIPTION:
This updated and enlarged second edition 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 clinicians and laboratory personnel alike - reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician""s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases.
CONTENTS:
General Subjects and Profiles
Newborn Screening for Inborn Errors of Metabolism
Simple Tests and Routine Chemistry
Amino Acids
Organic Acids
Acylcarnitines
Lysosomals
Untargeted Metabolomics: Next-Generation Metabolic Screening
MRI and In Vivo Spectroscopy of the Brain
Genomic Approaches for the Diagnosis of Inborn Errors of Metabolism
Other -omics Approaches and Their Integration for the Diagnosis and Treatment of Inborn Errors of Metabolism
Emergency Diagnostic Procedures and Emergency Treatment
Nosology of Inborn Errors of Metabolism
Disorders of Nitrogen-Containing Compounds
Purine and Pyrimidine Disorders
Disorders of Nucleotide Metabolism
Disorders of Creatine Metabolism
Disorder of Glutathione Metabolism
Disorders of Ammonia Detoxification
Amino Acid Transport Defects
Disorders of Monoamine Metabolism
Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
Tyrosine Metabolism
Disorders of Sulfur Amino Acid and Hydrogen Sulfide Metabolism
Disorders of Branched-Chain Amino Acid Metabolism
Disorders of Beta and Gamma Amino Acids
Amino Acid Synthesis Deficiencies
Disorders of Glycine Metabolism
Disorders of Lipoic Acid and Iron-Sulfur Protein Metabolism
Disorders of Vitamins, Cofactors, Metals and Minerals
Disorders of Cobalamin Metabolism
Disorders of Folate Metabolism and Transport
Disorders of Biotin Metabolism
Thiamine Disorders
Disorders of Riboflavin Metabolism
Disorders of Niacin, NAD, and Pantothenate Metabolism
Vitamin B6-Dependent and Vitamin B6-Responsive Disorders
Molybdenum Cofactor Disorders
Disorders of Copper, Zinc, and Selenium Metabolism
Disorders of Iron Metabolism
Disorders of Manganese Metabolism
Disorders of Carbohydrates
Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism
Disorders of the Pentose Phosphate Pathway and Polyol Metabolism
Congenital Hyperinsulinism
Mitochondrial Disorders of Energy Metabolism
Disorders of the Pyruvate Metabolism and the Krebs Cycle
Disorders of Mitochondrial Carriers
Isolated Mitochondrial Complex Deficiencies
Disorders of Replication, Transcription and Translation of Mitochondrial DNA
Disorders of Mitochondrial Homeostasis, Dynamics, Protein Import, and Quality Control
Primary Coenzyme Q10 Deficiencies
Disorders of Lipids
Mitochondrial Fatty Acid Oxidation Disorders
Disorders of Glycerol Metabolism
Disorders of Ketone Body Metabolism and Transport
Disorders of Complex Lipids
Disorders of Eicosanoid Metabolism
Disorders of Lipoprotein Metabolism
Disorders of Cholesterol Biosynthesis
Disorders of Adrenals and Gonads
Disorders of Bile Acid Synthesis
Disorders of Tetrapyrroles
Disorders of Heme Metabolism
Inherited Disorders of Bilirubin Metabolism
Storage Disorders
Disorders of Autophagy
Lipidoses: The Sphingolipidoses, Lysosomal Acid Lipase Deficiency, and Niemann-Pick Type C
The Neuronal Ceroid Lipofuscinoses
Mucolipidoses, Multiple Sulfatase Deficiency, and Cathepsin K and C Deficiency
Oligosaccharidoses and Sialic Acid Disorders
The Mucopolysaccharidoses
Cystinosis
Disorders of Peroxisomes and Oxalate
Peroxisomal Disorders
Disorders of Oxalate Metabolism
Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation
Various
Cerebral Organic Acidurias
3-Methylglutaconic Acidurias
Biochemical Phenotypes of Questionable Clinical Significance
Knowledge Base of Inborn Errors of Metabolism (IEMbase): A Practical Approach
WikiPathways: Integrating Pathway Knowledge with Clinical Data
Correction to: Physician""s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
