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Volume 8, Issue 2 (Suppl) J Neurol Neurophysiol
ISSN: 2155-9562 JNN, an open access journal Neurology 2017
March 27-29, 2017
March 27-29, 2017 Madrid, Spain
11th World Congress on
Neurology and Therapeutics
Neuropsychiatric signs and symptoms in treatable inborn errors of metabolism
Saba Nia
Kaiser-Franz-Josef-Spital, Austria
Possible underlying organic causes of psychiatric symptoms can be overlooked in the clinical setting. It is important to increase
awareness amongst psychiatric and neurological professionals with regard to certain inborn errors of metabolism as, in some
cases, disease-specific therapies are available that can, for instance, treat underlying metabolic causes. The following talk describes the
basic pathophysiology, clinical and neurological features, and available diagnostic procedures of six treatable metabolic diseases that
are associated with neuropsychiatric symptoms: Wilson’s disease, cerebrotendinous xanthomatosis, porphyrias, homocysteinemia,
urea cycle disorders, and Niemann-Pick disease type C (NP-C). NP-C is taken as a particularly relevant example because, while
it is traditionally considered to be a condition that presents with severe neurological and systemic manifestations in children, an
increasing number of patients are being detected who have the adolescent- or adult-onset form, which is frequently associated with
neuropsychiatric signs. A notable proportion of adult-onset cases have been reported where NP-C has mistakenly been diagnosed
and treated as a psychiatric condition usually based on patients’ initial presentation with psychotic or schizophrenia-like symptoms.
Underlying organic causes of psychiatric disorders such as psychosis should be considered among patients with atypical symptoms
and/or resistance to standard therapy. Alongside improved frameworks for additional multidisciplinary diagnostic work in patients
with suspected organic disease, the development of convenient and affordable biochemical screening and/or diagnostic methods has
enabled new ways to narrow down differential diagnoses
Biography
Saba Nia received her Medical Degree in 2005 from the Medical University in Vienna, Austria. She began her Clinical career in the field of Psychiatry in Austria and
Germany. After receiving her board certification in Psychiatry in 2011, she continued her training in the field of Neurology in Vienna, which she concluded in 2014. She is
specialized in Rare Metabolic Diseases in the Neuropsychiatric field and has organized several congresses featuring neuropsychiatric symptoms in treatable inborn errors
of metabolism. Her interests include movement disorders, organic psychosis and dementia in young adults.
Saba Nia, J Neurol Neurophysiol 2017, 8:2 (Suppl)