ABSTRACT

Disorders that lead to neurotransmitter imbalance include aromatic L-amino acid decarboxylase (AADC) deficiency, which also leads to both catecholamine and serotonin deficiency, tyrosine hydroxylase (TH) deficiency, and the dopamine transporter deficiency syndrome, which cause catecholamine deficiency. The disorders of BH4 synthesis (Chapter 16) also lead to abnormalities with the biogenic amine neurotransmitters.