Section 29. Disorders of the Nervous System >
Part 7. Developmental Delay and Regression >
Chapter 577. Neurotransmitter DisordersErika Fullwood Augustine and Annapurna Poduri
Topics Discussed: dopamine; neurology; neurotransmitter metabolism; serotonin.
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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