Titlebook: Inherited Metabolic Diseases; A Clinical Approach Georg F. Hoffmann,Johannes Zschocke,William L. Nyh Book 2017Latest edition Springer-Verla

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Patient Care and Treatmentconsanguinity, the possibility of carrier detection, and prenatal or preimplantation diagnosis can create a severe psychosocial burden for individuals and families as a whole. This implies the need for an equally diverse multidisciplinary approach to care and treatment.

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Adolescence, Emerging Adulthood, and Problems of Transitionion process is further investigated from the viewpoint of adolescence with special health-care needs giving emphasis to the transition from young to mature adulthood. This is followed by the discussion of existing guidelines and structures outlining options and future directives with emphasis on patients with inborn errors of metabolism.

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Approach to the Child Suspected of Having a Disorder of Fatty Acid Oxidation begin with assay of the acylcarnitines by MS/MS, and this may indicate the diagnosis and the appropriate enzymatic assay. Organic acid analysis should reveal the diagnosis in those with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

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Disorders of the Biosynthesis and Breakdown of Complex Moleculesand others. Other relevant disease groups include disorders of the metabolism of isoprenoids and sterols, disorders of posttranslation protein modification, disorders of bile acid and bilirubin metabolism, and inherited cholestasis and porphyrias disorders of lipoprotein metabolism.

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Structured Communication and Behavioural Medicinel experience allow the prediction of information needs and questions of patients, facilitating the preparation and training of communication skills and material supporting information transfer. Untrained professionals are at risk to overestimate their communicative competence and should be monitored by interprofessional supervision.

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Workup of the Patient with Metabolic Acidosis and Massive Ketosisan intestinal losses or a renal tubular acidosis from other causes, the former with acidic urine and the latter with alkaline urine. Quantitative organic acid analysis by gas chromatography-mass spectrometry is essential in differential diagnosis which may be faster achieved by acylcarnitine (MS/MS) analysis.

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Guidelines and Follow-Upt plan and follow-up is made by a healthcare professional or an interdisciplinary team of experts. This process includes the patient and his/her family; different options should be discussed with them and opportunities for individualization of treatment and follow-up considered.