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Inborn errors of metabolism for the diagnostic radiologist

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Abstract

Inherited metabolic disorders are becoming more important with the increasing availability of diagnostic methods and therapies for these conditions. The radiologist has become an important link in making the diagnosis or collaborating with the specialist centre to diagnose these disorders and monitor effects of therapy. The modes of presentation, disease-specific groups, classic radiological features and investigations are explored in this article to try and give the general radiologist some crucial background knowledge. The following presentations are covered: acute intoxication, hypoglycaemia, developmental delay and storage features. Specific groups of disorders covered are the abnormalities of intermediary metabolism, disorders of fatty acid oxidation and ketogenesis, mitochondrial disorders, lysosomal storage disorders, and, briefly, other groups such as peroxisomal disorders, disorders of glycosylation, and creatine synthesis disorders. New advances and the demands for monitoring are also briefly explored.

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Conflict of interest

The author is a medical advisor for some of the companies developing and marketing ultra-orphan drugs, is an invited speaker at some of their conferences, and has received travel grants and honoraria from them.

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  1. Department of Clinical Inherited Metabolic Disorders, Birmingham Children’s Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK

    Chris J. Hendriksz

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  1. Chris J. Hendriksz
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Correspondence to Chris J. Hendriksz.

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Hendriksz, C.J. Inborn errors of metabolism for the diagnostic radiologist. Pediatr Radiol 39, 211–220 (2009). https://doi.org/10.1007/s00247-008-1072-x

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  • DOI: https://doi.org/10.1007/s00247-008-1072-x

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