Inherited disorders of intermediary metabolism – a group-based approach
Johannes Zschocke
TL;DR
This paper introduces a group-based approach to understanding inherited metabolic disorders, helping with diagnosis and treatment.
Contribution
The novelty lies in organizing inherited metabolic disorders into groups to simplify diagnosis and treatment decisions.
Findings
Grouping disorders helps in understanding and remembering them.
The approach facilitates better diagnostic testing and acute treatment choices.
It aids in identifying metabolic disorders in family history for genetic counseling.
Abstract
In the recently developed International Classification of Inherited Metabolic Disorders (ICIMD), more than one third of the 1450 listed conditions involve gene products required for intermediary metabolism. 225 of these diseases represent deficiencies of enzymes or transport proteins in the breakdown of nutrients, many of which cause acute “metabolic” presentations with typical biochemical features that are amenable to specific treatments. A group-based approach to these conditions not only assists in understanding and remembering them but facilitates the best choice of diagnostic tests and acute treatment. This review describes the basic characteristics of the 25 disease groups in the four categories of nutrient breakdown in intermediary metabolism, outlines the often relatively straight-forward diagnostic approach, and summarizes important therapeutic principles. It should also assist…
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
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Taxonomy
TopicsMetabolism and Genetic Disorders · Amino Acid Enzymes and Metabolism · Glycogen Storage Diseases and Myoclonus