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

By systematically analysing MRI changes occuring in the brains of children with the metabolic disease glutaric aciduria type I researchers at Heidelberg University Hospital have succeeded for the first time in demonstrating reversible and permanent brain damage as well as elucidating its temporal evolution.

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.

These new insights enhance the understanding of the natural course of the disease and confirm the benefit and consequently the necessity of newborn screening for rare metabolic diseases and neonatal therapy. The study was published in the prestigious journal Brain.

Permanent damage when treatment is delayed

One of 100,000 newborns suffers from the rare metabolic disorder glutaric aciduria type I. Affected children are unable to break down certain amino acids (lysine, hydroxylysine, and tryptophan), which are components of proteins, but produce pathological metabolites that accumulate and can damage the developing brain.

Even before birth, brain changes indicating delayed development occur, which however are reversible if they receive adequate treatment in time. Permanent brain damage usually occurs in clinically inconspicuous babies if the diagnosis is not made in time and treatment is delayed.

Babies are initially free of symptoms / Severe crises during infancy and childhood

As newborns and young babies, the patients are initially inconspicuous. If not treated, they undergo a severe crisis at the age of 3 to 36 months. As the same deep regions of the brain are affected as in Huntington's disease, the children have similar movement disorders but their intelligence is usually spared by the neurodegenerative process.

However, the children'
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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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