Aromatic L-amino acid decarboxylase deficiency: perspectives on diagnosis and management

Abstract

Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive neurotransmitter defect that results in a combined central deficiency of monoamines, namely catecholamines and serotonin. To date, less than 100 patients have been described with AADC deficiency, most with a severe neurological phenotype. This review article illustrates the pathophysiology, diagnostic methods, and therapeutic strategies for patients with AADC deficiency. Two patients in our institution have extremely mild phenotypes and their robust response to treatment illustrates the variable severity of this condition and the need for early diagnosis of this potentially treatable disease.

Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis

“…One male of Taiwanese descent affected with the common IVS6+4 A>T mutation, reported in over 80% of Taiwanese patient populations (Lee et al 2013;Shih et al 2013), has a severe phenotype but has responded to combination medication therapy along with gastrostomy tube feedings. One 9-yearold girl on a combined regimen is now walking, verbalizing, and making developmental gains, which is relatively promising in light of prior reports reporting a worse prognosis in females (Tay et al 2013).…”