Laboratory Diagnosis of Inherited Metabolic Diseases,

Edition 2

Editors: Edited by Uttam Garg, PhD, DABCC, FABFT, FACB, Bryce Heese and Jennifer Gannon, MD, PhD

Publication Date: 01 Jul 2026

0 Reviews

Conformance

PDF/UA-1
The publication contains a conformance statement that it meets the EPUB Accessibility 1.1, WCAG 2.1, Level AA standard. Please see https://bornaccessible.benetech.org/certified-publishers/ for further details of our compatibility testing.
The publication was certified on 20250728
Accessibility addendum
The certifier's credential is https://bornaccessible.benetech.org/certified-publishers/
For detailed accessibility information, see Elsevier’s website at https://www-elsevier-com.ucc.idm.oclc.org/about/accessibility
Compatibility tested
For queries regarding accessibility information, contact [email protected]

Ways Of Reading

This e-publication is accessible to the full extent that the file format and types of content allow, on a specific reading device, by default, without necessarily including any additions such as textual descriptions of images or enhanced navigation.
All contents of the digital publication necessary to use and understanding, including any text, images (via alternative descriptions), video (via audio description) is fully accessible via suitable audio reproduction.

Navigation

The contents of the PDF have been tagged to permit access by assistive technologies as per PDF-UA-1 standard.
Page breaks included from the original print source

Additional Accessibility Information

All (or substantially all) textual matter is arranged in a single logical reading order (including text that is visually presented as separate from the main text flow, e.g., in boxouts, captions, tables, footnotes, endnotes, citations, etc.). Non-textual content is also linked from within this logical reading order. (Purely decorative non-text content can be ignored).
The language of the text has been specified (e.g., via the HTML or XML lang attribute) to optimise text-to-speech (and other alternative renderings), both at the whole document level and, where appropriate, for individual words, phrases or passages in a different language.
For readers with color vision deficiency, use of color (e.g., in diagrams, graphics and charts, in prompts, or on buttons inviting a response) is not the sole means of graphical distinction or of conveying information
Content is enhanced with ARIA roles to optimize organization and facilitate navigation
Where interactive content is included in the product, controls are provided (e.g., for speed, pause and resume, reset) and labelled to make their use clear.

WCAG v2.2

Note

This product relies on 3rd party tooling which may impact the accessibility features visible in inspection copies. All accessibility features mentioned would be present in the purchased version of the title.

Laboratory Diagnosis of Inherited Metabolic Diseases, Second Edition provides the most up-to-date guidance on laboratory test selection and interpretation, illustrated metabolic pathways, and information on clinical presentation, genetics, pathogenesis, treatment, and prognosis of these diseases. Since the first edition and the expansion of newborn screening, an increasing number of healthcare providers are encountering metabolic disorders, so selecting and interpreting tests can be challenging. This fully revised edition offers simple and practical approaches to understanding metabolic diseases, assisting in the selection of tests for confirmatory diagnosis and clinical follow-up.

Biochemical genetic testing is a key laboratory medicine discipline for evaluating, diagnosing, and treating inherited metabolic diseases (IMDs). These tests are complex and specialized, and use a variety of specimens, including blood, urine, plasma, and cerebrospinal fluid. The tests evaluate enzyme activity, protein function, and metabolite levels, such as fatty acids, amino acids, and organic acids.

Key Features

Presents brief descriptions of metabolic diseases as a basis for understanding each disease mechanism
Covers initial diagnostic markers, emphasizing the importance of biomarkers in disease monitoring and management
Provides substantial updates to the "Genetics and Pathogenesis" sections to reflect new discoveries and insights over the past twelve years
Includes two new chapters on "Disorders of Vitamins and Co-factors" and "Disorders of Trace Elements," offering detailed analysis of related disorders

About the author

Edited by Uttam Garg, PhD, DABCC, FABFT, FACB, Garg Department of Pathology and Laboratory Medicine, Children’s Mercy Hospital, Kansas City, MO, United States; University of Missouri School of Medicine, Kansas City, MO, USA; Bryce Heese, Director of the Division of Clinical Genetics at Children's Mercy Hospital, and Assoicate Professor of Pediatrics, University of Missouri School of Medicine in Kansas City, USA and Jennifer Gannon, MD, PhD, Children’s Mercy Hospital, USA

1. Introduction to the Laboratory Diagnosis of Inherited Metabolic Diseases
2. Amino Acid Disorders
3. Organic Acids Disorders
4. The Urea Cycle Disorders and Hyperammonaemias
5. Mitochondrial Fatty acid oxidation defects
6. Disorders of Carbohydrate Metabolism
7. Lysosomal storage diseases
8. Peroxisomal disorders
9. Transport Defects
10. Mitochondrial disorders
11. Disorders of Purine and Pyrimidine Metabolism
12. Creatine Deficiency Disorders
13. Disorders involving specific metals, vitamins and cofactors
14. Neurotransmitter disorders
15. Glycogen storage diseases
16. Gluconeogenesis disorders
17. Disorders of glycosylation
18. Newborn Screening

ISBN: 9780443413797

Page Count: 300

Retail Price :

A broad audience of healthcare professionals, including practicing physicians, and clinical laboratory scientists