Non-invasive MRI May Help Diagnose AADC Deficiency

Non-invasive MRI May Help Diagnose AADC Deficiency

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Non-invasive MRI May Help Diagnose AADC Deficiency

Systematic analysis of non-invasive MRI brain scans of people with aromatic l-amino acid decarboxylase (AADC) deficiency identified disease-related changes in brain structure, which may help diagnose the disorder and related conditions, a study suggests. The study, “Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients,” was published in the Journal of Inherited Metabolic Disorders.  Mutations in the DDC gene lead to reduced activity of the AADC enzyme, which is essential…

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