Nervous system is very often involved in inborn errors of metabolism (IEM). In clinical practice, those disorders showing exclusively neurological manifestations have a more difficult diagnostic approach than those affecting other organs. This course will give an overview of the main categories of IEMs that affect the brain introducing the pathophysiological mechanisms of neuronal damage as well as the most prominent neurological signs.
Metabolism of sulfur amino acids is intertwined with metabolism and transport of folates and several B-vitamins. This course will give an overview of sulfur amino acids metabolism and of related sulfur containing compounds and its dependence on functional B-vitamin processing. Further topics will include detailed description of inborn errors of metabolism of sulfur amino acids and B-vitamins, association of B-vitamin disturbances with common disorders, diagnostic algorithms for hyperhomocysteinemias and methylation disorders including new-born screening strategies.
Inborn errors of neurotransmitter, BH4 and folate metabolism are treatable disorders. Without therapy they lead to early onset movement disorders. Immediate diagnosis and treatment initiation result in an improved outcome. This course is aimed at clinicians with a basic knowledge of inborn errors of neurotransmitter, pterin and folate metabolisms who are working a metabolic or child neurology clinic. Both adult and childhood disease will be covered so it is suitable for practitioners in both areas.
Almost 40 new diseases related to genetic defects in enzymes involved in the biosynthesis and remodelling of phospholipids, sphingolipids and complex fatty acids have been described within the last 5 years. New descriptions and new phenotypes are expanding rapidly in paediatrics and adulthood.
This course, aimed at both pediatric and adult metabolic specialists and trainees, will discuss and address a number of controversies in the management of older patients with IMDs. The course is restricted to 50 participants plus faculty.
Dysmorphism and radiological signs can be good diagnostic handles for a number of inborn errors of metabolism (IEM). The course will focus on these clinical aspects of IEMs. The venue is Manchester, U.K., home of the Willink Biochemical Genetics Unit and one of the leading centres for clinical dysmorphology. We have assembled world experts in the field for the course. The topics covered will be of interest to clinicians who deal with rare disorders or have an interest in clinical genetics, IEMs or Paediatrics. It is expected that participants will have some background knowledge of the field although extensive experience is not required. Participants are strongly recommended to bring interesting, unusual or unsolved cases.
As we get better at recognising, diagnosing and managing inherited metabolic diseases, we create a set of new challenges. Patients with classical IMDs are surviving longer, so adult physicians looking after IMD patients are being presented with sicker patients who are more likely to have metabolic decompensations. We are also learning more about the natural history of these disorders and recognising that there are long-term complications in patients who survive the acute presentation. There is still much to learn about how older patients should be managed in order to minimise the risk of complications and maximise quality of life. A successful transition process to adult care is crucial in this respect. In addition, as diagnostic tests become more generally available, it is becoming clear that there are attenuated forms of many of these diseases which often look very different to the classical, infantile-onset conditions. In this course, aimed at both paediatric and adult metabolic specialist and traineess, we will discuss these issues and address a number of specific controversies in the management of older patients with IMDs.
This course is aimed at clinicians with a basic knowledge of inborn errors of metabolism who are training or working in this field. Both adult and childhood disease will be covered so it is suitable for practitioners in both areas. This course is intended to be interactive; it brings together a vast array of know-how, experts and resources to improve participants understanding of IEM in order to promote best practice in hospitals and healthcare systems.
The aim of this e-learning is to provide the learner with a comprehensive understanding of hyperammonaemia including its causes and clinical consequences. After completing the module the learner will know how to investigate and manage patients appropriately in order to achieve the best possible outcome.
in collaboration with Bambino Gesù Children's Hospital, University of Zurich and ERA-EDTA Working Group on Inherited Kidney