Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered.
|Published (Last):||15 May 2005|
|PDF File Size:||15.68 Mb|
|ePub File Size:||17.80 Mb|
|Price:||Free* [*Free Regsitration Required]|
So, this is a handbook about metabolic disorders. The book contains virtually everything you need to know if you are, or want to become, a practicing clinical geneticist who specializes in metabolic disorders. The first 50 pages or so are probably most relevant to someone who is not a clinical geneticist. These pages lay out the approach to the investigation, or work-up, of patients with suspected rare metabolic diseases.
Vedemecum Metabolicum The rest of the book contains discussions of specific disorders such as Maple Syrup Urine Disease, Alkaptonuria, and hereditary fructose intolerance. Although concise, the discussions are relevant and sufficiently detailed. Each disease is discussed in terms of clinical presentation, biochemistry, diagnosis, and treatment if known. Normal pregnancy and birth, but the infant begins to deteriorate after an asymptomatic interval usually after 24 hours Symptoms are precipitated or exacerbated by changes in metabolic state or habits: feeding, starvation, dietary changes, or exertion.
Progressively worsening dysmorphic features. Unusual or suspicious family history, such as consanguinity or early death, particularly in infancy. Unexplained multisystem disorders. On some websites, you can expect to pay close to a thousand dollars U.
I highly recommend Vademecum Metabolicum to clinical geneticist, neonatologists and trainees in those fields. Generalists with an interest in inherited metabolic diseases would also undoubtedly enjoy browsing through it.
Vademecum Metabolicum (2011)