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Inborn Metabolic Diseases: Diagnosis and Treatment has for many years been considered a
classic textbook, indispensable to those involved in the care of patients with inborn errors of
metabolism, including paediatricians, clinical biochemists, neurologists, specialists in internal
medicine, geneticists, dietitians, nurses and clinical psychologists. The 4th edition was published
five years ago and sadly, since then, in 2009, John Fernandes, the early spiritual father,
of the book, has died.
This new 5th edition has been extensively revised, but remains focused on the clinical
symptoms and signs at presentation, the investigations necessary to reach a correct diagnosis
and the management of specific disorders. We have also borne in mind the need to keep the
book to a reasonable size. Two new chapters have been added; the first on the diagnostic approach
to neurometabolic disorders in adulthood and the second on disorders of phospholipid
and sphingolipid synthesis. All chapters from the 4th edition have been carefully updated,
and some considerably extended; for example, the chapter on the transport of metals now includes
iron, manganese and selenium transport disorders in addition to those of copper, zinc
and magnesium. Chapter 1 has also been extended and now includes many genetic disorders
affecting transporters, channels and enzymes implicated in the logistics and regulation of
the cells, disorders which exemplify the bridge between classic metabolic diseases and those
caused by structural proteins mutations. |
