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.Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com

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Nenad Blau is a senior consultant in biochemical genetics at the Division of Metabolism, University Children's Hospital in Zürich (UZH), Switzerland. Previously he was the head of the Laboratory for Tetrahydrobiopterin and Neurotransmitter Diseases at the University Children's Hospital in Zurich and for the last 8 years as a senior consultant in biochemical genetics at the University Children's Hospital in Heidelberg, Germany. His research group discovered several inborn errors of metabolism, including GTP cyclohydrolase deficiency, pterin-carbinolamine dehydratase deficiency, and sepiapterin reductase deficiency. He established and curates the PAH locus-specific database, database of PKU genotypes and phenotypes, and database of BH4 deficiencies. With colleagues from Vancouver he developed the online knowledgebase of inborn errors of metabolism, IEMbase. He is author of more than 400 research publications, including the standard books Physician's Guide to the Laboratory Diagnosis, Treatment and Follow-up of Inherited Metabolic Disease, and Laboratory Guide to the Methods in Biochemical Genetics. Professor Blau is an honorary member of the Italian Society for Pediatrics. For his research in the field of tetrahydrobiopterin and phenylketonuria he received the Horst-Bickel Award in 2001, the Gowland Hopkins Award in 2005, and he received the Asbjørn Følling award in 2011. Carlo Dionisi-Vici obtained his residency in Paediatrics at "La Sapienza" University, Rome, Italy. He is the head of the Division of Metabolic Diseases and of the Research Unit for Metabolic Diseases at the Bambino Gesù Children's Research Hospital, Rome. Dr Dionisi-Vici is the past-president of the Italian Society for the Study of Inborn Errors of Metabolism (SIMMESN), and was a council member of the Society for the Study of Inborn Errors of Metabolism (SSIEM) from 2010 to 2016. His clinical work and research focus on the field of inborn errors of metabolism, including defects of intermediary metabolism, subcellular organelle disorders and inherited defects of intracellular vesicular trafficking. With his research group, he participated in the discovery of new inborn errors of metabolism, including ethylmalonic encephalopathy, MEDNIK syndrome, and Vici syndrome. He is the author of more than 250 peer-reviewed publications. Within the MetabERN consortium he is responsible for the work-package guidelines and for the sub-network carbohydrate and fatty acid oxidation disorders. Carlos R. Ferreira is board-certified in Internal Medicine, Medical Genetics, and Clinical Biochemical Genetics, and specializes in genetic disorders of bone development and inborn errors of metabolism. He led a team of researchers that elucidated the molecular defect underlying Saul-Wilson syndrome, a rare disorder of vesicular trafficking leading to skeletal dysplasia. He contributed to the finding of disturbed tryptophan catabolism as a new etiology of Catel-Manzke syndrome (another rare constitutional disorder of bone development), and to finding the cause of a rare hematologic disorder, combined alpha-delta platelet storage pool deficiency. He was part of several collaborations that led to the discovery of novel genetic disorders, including a primary CoQ10 biosynthetic defect (COQ5 deficiency), a genetic form of renal Fanconi syndrome due to GATM aggregates, a rare neuromuscular defect (Carey-Fineman-Ziter syndrome), a novel neurodegenerative condition (TRAK1 deficiency), and a skeletal dysplasia in the dysosteosclerosis-Pyle disease spectrum. Dr. Ferreira participates as faculty in the annual North American Metabolic Academy (NAMA) course. He has authored more than 90 indexed publications, one of which recently received the Emmanuel Shapira Award (bestowed to the best paper published in Molecular Genetics and Metabolism). Christine Vianey-Saban is the former Head of the Department for