Term
| GLUT 1 deficiency syndrome |
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Definition
| low glucose concentration in the CSF (hypoglycorhachia). seizures, developmental delay. Treat with ketogenic diet |
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Term
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Definition
| Blocks catecholamine uptake used as an antihypertensive and antiepileptic drug |
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Term
|
Definition
| biogenesis of the secretory vesicles |
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Term
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Definition
| copper-dependent tyrosine hydroxylase of melanocytes is deficient. |
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Term
|
Definition
| degradation product of tyrosine that mimics norepinephrine. Inactivated by MAO-A |
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Term
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Definition
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Term
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Definition
| inhibits the reuptake of GABA to treat epilepsy |
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Term
| alpha-oxidation deficiency |
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Definition
| elevated phytanic acid, very-long-chain- fatty acids, no palmitate elevation |
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