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Rudolph's PediatricsRudolph's Pediatrics

Section 29. Disorders of the Nervous System > 

Part 7. Developmental Delay and Regression > 

Chapter 577. Neurotransmitter Disorders

Erika Fullwood Augustine and Annapurna Poduri
Topics Discussed: dopamine; neurology; neurotransmitter metabolism; serotonin.
Sections: Guanosine Triphosphate Cyclohydrolase Deficiency, Tyrosine Hydroxylase Deficiency, Aromatic L-Amino Acid Decarboxylase Deficiency, Monamine a Deficiency, Disorders of –Amino Butyric Acid Metabolism, Disorders of Glycine Metabolism, Cerebral Folate Deficiency, Evaluation and Testing, References.
Excerpt:"The pediatric neurotransmitter disorders are a fairly recently described group of inherited neurometabolic disorders related to defects in neurotransmitter synthesis or breakdown. These disorders may be divided into defects of -aminobutyric acid (GABA), glycine or monoamine metabolism, and secondary neurotransmitter deficiency states. This chapter will primarily discuss disorders of monoamine metabolism; we will focus on the diseases best characterized to date, including GTP cyclohydrolase deficiency, tyrosine hydroxylase deficiency, aromatic L-amino acid decarboxylase deficiency, and monoamine A deficiency...."
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