Neuroimaging findings in children with paediatric neurotransmitter diseases

Summary Paediatric neurotransmitter diseases consist of a group of inherited neurometabolic diseases in children, and include disorders related to γ-amino butyric acid (GABA) metabolism, monoamine biosynthesis, etc. The diagnosis of paediatric neurotransmitter diseases remain a great challenge for p...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2009-06, Vol.32 (3), p.361-370
Main Authors: Lee, Wang-Tso, Weng, Wen-Chin, Peng, Shinn-Forng, Tzen, Kai-Yuan
Format: Article
Language:English
Subjects:
Alcohol Oxidoreductases - deficiency
Alcohol Oxidoreductases - genetics
Aromatic-L-Amino-Acid Decarboxylases - deficiency
Aromatic-L-Amino-Acid Decarboxylases - genetics
Biochemistry
Biological and medical sciences
Brain - diagnostic imaging
Brain Diseases, Metabolic, Inborn - diagnostic imaging
Child
Diagnostic Imaging - methods
Diagnostic Techniques, Neurological
General aspects
Human Genetics
Humans
Internal Medicine
Medical genetics
Medical sciences
Medicine
Medicine & Public Health
Metabolic Diseases
Models, Biological
Neurotransmitter Agents - deficiency
Neurotransmitter Agents - physiology
Pediatrics
Radiography
Succinate-Semialdehyde Dehydrogenase - deficiency
Succinate-Semialdehyde Dehydrogenase - genetics
Symposium on Neurotransmitter Disorders
Tyrosine 3-Monooxygenase - deficiency
Tyrosine 3-Monooxygenase - genetics
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Summary:Summary Paediatric neurotransmitter diseases consist of a group of inherited neurometabolic diseases in children, and include disorders related to γ-amino butyric acid (GABA) metabolism, monoamine biosynthesis, etc. The diagnosis of paediatric neurotransmitter diseases remain a great challenge for paediatricians and child neurologists. In addition to clinical manifestations and CSF neurotransmitter measurement, neuroimaging findings can also be very informative for the diagnosis and evaluation of the patients. For patients with monoamine biosynthesis disorders, the functional evaluation of dopaminergic transmission also plays an important role. Understanding of the possible neuroimaging changes in paediatric neurotransmitter diseases is therefore of great value for the investigation of these patients.
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-009-1106-z