Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment
Aromatic L-amino acid decarboxylase Alarm Clock (AADC) deficiency (MIM #608643) is an autosomal recessive inborn error of monoamines.It is caused by a mutation in the DDC gene that leads to a deficiency in the AADC enzyme.The clinical features of this condition include a combination of dopamine, noradrenaline, and serotonin deficiencies, and a pati