Many children with inherited metabolic diseases (IMD) now survive into adulthood and require transition to adult physicians who are often not familiar with the management of these diseases. It is now recognised that patients with IMD may also present in adulthood, often with high complexity medical disorders that require multidisciplinary medical services. This course will address the management and treatment of patients with IMD throughout life, including long-term complications and a number of controversies in the management of older patients. This course is aimed at both paediatric and adult physicians who may be taking care of metabolic patients; it will be restricted to 35-40 participants plus faculty.
Early diagnosis and management of newborns and infants with inherited metabolic disorders is essential for the affected children’s outcome. However, the quick and correct recognition of specific inherited metabolic disease in neonates is a challenge for neonatologists. It may be difficult, especially in critically ill neonates, to distinguish between the primary genetically encoded metabolic disorder and the secondary metabolic disturbances resulting in similar clinical picture.
Mitochondrial diseases are an important group of inherited metabolic disorders affecting children and adults, with an extremely wide range of clinical symptoms and an ever increasing number of genetic causes. Since the identification of the first molecular anomalies 30 years ago the clinical features and molecular basis of the main mitochondrial disorders have been deciphered. Major advances have been achieved in the diagnosis of these disorders in recent years, with the advent of improved molecular techniques.
Despite representing no more than 10 % of the total number of genetic diseases, inherited metabolic diseases are disproportionately important as many of them are treatable. Dietary treatment for phenylketonuria was developed in the mid-20th century, and led to the introduction of universal newborn screening programmes. Dietary treatments are now available form many disorders, and more recently small molecule and biological approaches have been developed. Organ transplantation has been used successfully in a range of conditions and genetic approaches are now being developed.
Severe neurological presentations are major clinical findings in patients with inherited disorders of group B vitamins (B1, B6, Biotin, B12 and Folate). These include developmental delay, myelopathy, peripheral neuropathy , spasticity, truncal ataxia and cerebral atrophy, subacute combined degeneration of the spinal cord, optic atrophy, ataxia, long-tract signs and dementia, retinal degeneration, choreoathetosis, intractable epilepsy progressive neurological deterioration with seizures and sometimes with intracranial calcifications and demyelination.
A course jointly organised by the Hepatology and Metabolic Center, Leuven and the Charles Dent Metabolic Unit, London. This course will include up to date, state of the art lectures and debates, with expert European speakers, regarding current evidence for predicting / preventing complications, and treatment, including transplant and its outcomes, in inherited liver disease.
The synapse is a highly specialized structure with specific chemical composition and metabolic functions that are necessary for an appropriate neuronal communication and brain development. Neurometabolic diseases are genetic conditions that lead to abnormal concentration and function of different molecules in the brain. Most of them disturb crucial pre and post-synaptic functions and therefore impair neural connectivity and brain circuitries leading to symptoms such as intellectual disability, neuropsychiatric signs, epilepsy, and movement disorders.
Inherited metabolic diseases (IMDs) are an increasing and one of the most common groups among rare diseases. In order to provide optimal care for patients, it is essential that health professionals involved in the diagnosis and management of IMDs have a thorough understanding of these conditions. The purpose of this course is to ensure an appropriate level of knowledge for those training in this area of medicine.
Solid organ and bone marrow transplantation have become more prominent in the field of inherited metabolic medicine over the past decade. Major advances in transplantation have allowed partial or complete cure in some inherited metabolic diseases for children and adults. Careful selection and planning are required for optimal survival. Longer term survivors now reveal more questions to be answered in terms of optimal monitoring and follow up. A multidisciplinary approach is essential in selecting and managing cases peri- and post-operatively to achieve good outcomes.
Metabolic myopathies (MM) are an important group of potentially treatable inherited muscle disorders affecting children and adults.
Major advances have been achieved in the diagnosis of these disorders over the past years thanks to improvements in biochemical and molecular techniques. However, exercise testing and muscle biopsy still have an important place in the diagnostic strategy.