H.W. De Valk Md Phd - Practical Approach To Rare Metabolic Disorders In Adulthood

ISBN
   

Soort boek
Paperback

Rare inborn errors of metabolism are associated with childhood days, early death or life in an institution. But through improved care and developments in obstetrics, neonatal medicine and paediatric medicine, more patients with ever more 'classic' paediatric metabolic diseases reach adulthood in a good state of health and are able to function freely and independently in society. Still, they do need specialised care and counselling and ultimately depend for this on the specialists for adults like internists, neurologists and cardiologists.<br />Expertise on diseases like phenylketonuria, galactosaemia and urea cycle defects is limited, scattered and not easily accessible, making the care for these patients very time-consuming. In addition, we have come to recognize that some adults have a relatively mild form of the disease and may only be diagnosed in adult life because of a complication like a cerebral infarction or an ophthalmological problem. In some cases, because of insufficient awareness, the metabolic basis of the manifestation will not be recognized at all.<br />This book offers a guide on how to diagnose the metabolic basis of certain clinical manifestations in adult life (for example osteoporosis, hyperammonaemia) and discusses the issue of fertility and pregnancy, in combination with a concise and practice-orientated description of the most relevant diseases. This hands-on, practical approach is meant to help internists, cardiologists, neurologists, obstetricians and other specialists to learn to deal with these diseases and the patients suffering from them.