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Therapy should extend beyond childhood
Date:7/29/2009

s prognosis is favourable if the disease is detected early by newborn screening, which -using a drop of blood taken from the heel- is carried out in Germany for all newborns. The diagnosis after birth is the most important condition for successful treatment, i.e. normal development and prevention of irreversible cerebral injury. The therapy consists of a special diet low in the amino acid lysine, and supplemented with carnitine, an endogenous carrier for fatty acids, which is lost through urine in this disease. In addition, intensive emergency treatment of the metabolism must be carried out to prevent a metabolic crisis during febrile infections.

For their study, an international interdisciplinary research group of neuroradiologists and pediatricians headed by Dr. Stefan Klker from the Center for Pediatric and Youth Medicine and Dr. Inga Harting from the Department of Neuroradiology examined 38 patients from newborns to adulthood, comparing MRI changes with neurological symptoms and analyzing the time patterns.

Reversible and irreversible changes occur

They discovered that MRI changes in certain regions of the brain (e.g. in the white matter and cerebral cortex) occured frequently and in all patients, whereas changes in the basal ganglia occurred only in patients who had experienced encephalopathic crises. The changes outside of the basal ganglia were quite variable, some were reversible, and some were apparent as early as the neonatal stage and had no clinical significance. In contrast, the changes in the basal ganglia were irreversible and were clearly associated with the development of severe movement disorders.

The Heidelberg researchers now assume that during the course of the disease, the products of metabolism cause not only acute, but chronic toxic damage as well. Therapy should thus be extended to prevent long-term brain damage.

The Heidelberg researchers hypothesize that in the course of the disease, a
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Contact: Dr. med. Inga Harting
Inga.Harting@med.uni-heidelberg.de
062-215-67564
University Hospital Heidelberg
Source:Eurekalert  

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