Abstract
Paediatric neurotransmitter diseases consist of a group of inherited neurometabolic diseases in children, and include disorders related to gamma-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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Alcohol Oxidoreductases / deficiency
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Alcohol Oxidoreductases / genetics
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Aromatic-L-Amino-Acid Decarboxylases / deficiency
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Aromatic-L-Amino-Acid Decarboxylases / genetics
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Brain / diagnostic imaging*
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Brain Diseases, Metabolic, Inborn / diagnostic imaging*
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Child
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Diagnostic Imaging / methods*
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Diagnostic Techniques, Neurological*
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Humans
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Models, Biological
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Neurotransmitter Agents / deficiency
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Neurotransmitter Agents / physiology
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Radiography
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Succinate-Semialdehyde Dehydrogenase / deficiency
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Succinate-Semialdehyde Dehydrogenase / genetics
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Tyrosine 3-Monooxygenase / deficiency
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Tyrosine 3-Monooxygenase / genetics
Substances
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Neurotransmitter Agents
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Alcohol Oxidoreductases
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sepiapterin reductase
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Tyrosine 3-Monooxygenase
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Succinate-Semialdehyde Dehydrogenase
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Aromatic-L-Amino-Acid Decarboxylases