Nenad Blau, Carlo Dionisi Vici, Carlos R. Ferreira, Christine Vianey-Saban, Clara D. M. van Karnebeek. Physician's Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases. (2022) 2nd ed. Springer Nature; ISBN: 978-3-030-67727-5

This book is one of the most used unique sources of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. The clinical and laboratory data characteristic of the ever-growing number of rare metabolic conditions can be bewildering for the general clinician. Reference laboratory data are scattered and clinical descriptions maybe obscure. The Physician's Guide documents the features of more than 1,500 conditions, grouped according to disorder category. Relevant clinical findings are provided and pathological values for diagnostic metabolites are provided. Signs and symptoms are provided for each disorder from birth through adulthood. In addition, the role of biochemical genetic testing is outlined Treatment protocols and experimental therapies are fully described, with guidance on follow-up and monitoring. The authors are acknowledged experts from across the world, and the book will be invaluable to all who deal with patients with inherited metabolic diseases, including pediatricians, internists, neurologists, and clinical geneticists, as well as clinical and biochemical geneticists.

THE LEIGH MAP (maintained by the Molecular Systems Physiology Group at the National University of Ireland, Galway)

The Leigh Map is a novel gene-to-phenotype interaction network which can be used as a diagnostic resource for Leigh syndrome (IEMBASE000422; MIM 256000), one of the most frequently observed mitochondrial disorders. The user interface of Leigh Map is similar to Google Maps, whereby the user can zoom in to view increasingly detailed components and query elements of the map.

In Leigh Map, causative Leigh syndrome genes are arranged according to mitochondrial location and function. Zooming in will reveal icons for genes in their individual compartments.

Clicking on a gene icon will display inheritance information, patient demographics, and links to external databases. Clicking on a submap associated with a gene will display all HPO phenotypes associated with that particular gene defect.

Hoffmann, F. G. and N. Blau (2014). Congenital Nueurotransmitter Disorders: A Clinical Approach. Nova Publishers Inc., Huppauge, NY

Congenital neurotransmitter disorders are nowadays recognized as important causes of severe, progressive encephalopathies mostly of early onset. They are ultraorphan diseases and numerous experiences confirm again and again that diagnosis and treatment of patients is often almost regularly delayed for many years, if ever at all. Specific therapeutic approaches which can lead to excellent outcomes, especially if instituted early, are thereby withheld from patients and their families. The diagnosis of these disorders is almost exclusively based on clinical signs and symptoms.

Vademecum Metabolicum: Diagnosis and Treatment of Inborn Errors of Metabolism

Zschocke J, Hoffmann GF. Vademecum Metabolicum: Diagnosis and Treatment of Inborn Errors of Metabolism. Friedrichsdorf: 3rd Ed. Schattauer; 2011

This concise book explains the typical presentation patterns of the various metabolic disease groups; describes essential differential diagnostic procedures; and summarizes the main features of all metabolic diseases from the clinician's point of view.

Sarafoglou K, Hoffmann GF, Roth KS. Pediatric Endocrinology and Inborn Errors of Metabolism. New York: McGraw-Hill; 2009

Manage both pediatric endocrine disorders and inborn errors of metabolism with this comprehensive, clinically focused guide. In Pediatric Endocrinology and Inborn Errors of Metabolism, a team of international contributors delivers the latest information and clinical insights you need to confidently diagnose and manage pediatric patients. This full-color resource guides you through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations and treatment regimens of each disorder.

Saudubray JM, van den Berghe G, Walter JH. Inborn Metabolic Diseases: Diagnosis and Treatment 5th Ed. Springer, Berlin 2012

This book has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. The book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognized experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.


OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.

The Online Metabolic and Molecular Bases of Inherited Disease

David Valle, MD, Editor-in-Chief, Arthur L. Beaudet, MD, Editor, Bert Vogelstein, MD, Editor, Kenneth W. Kinzler, Ph.D., Editor, Stylianos E. Antonarakis, MD, D.Sc., Editor, Andrea Ballabio, MD, Editor, K. Michael Gibson, Ph.D., FACMG, Editor, Grant Mitchell, MD, Editor


ClinVar aggregates information about genomic variation and its relationship to human health.

Gene Cards

GeneCards is a searchable, integrative database that provides comprehensive, user-friendly information on all annotated and predicted human genes. It automatically integrates gene-centric data from >100 web sources, including genomic, transcriptomic, proteomic, genetic, clinical and functional information.


The Human Metabolome Database (HMDB) is a freely available electronic database containing detailed information about small molecule metabolites found in the human body. It is intended to be used for applications in metabolomics, clinical chemistry, biomarker discovery and general education.


The Genetic Testing Registry (GTRĀ®)

The Genetic Testing Registry (GTRĀ®) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease.

Gene reviews

GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.


KEGG is a database resource for understanding high-level functions and utilities of the biological system, such as the cell, the organism and the ecosystem, from molecular-level information, especially large-scale molecular datasets generated by genome sequencing and other high-throughput experimental technologies.


The mission of UniProt is to provide the scientific community with a comprehensive, high-quality and freely accessible resource of protein sequence and functional information.

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