Thelansis

  Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency is a rare autosomal recessive disorder known as Aromatic L-amino acid decarboxylase deficiency is attributed to mutations in the DDC gene. This disorder arises from a deficiency in the enzyme aromatic L-amino acid decarboxylase (AADC), which generally converts L-dopa and 5-hydroxytryptophan into dopamine and serotonin, respectively. The typical presentation of AADC deficiency in infants includes muscular hypotonia, oculogyric crises, and developmental delay. Additional features may include disturbances in thermoregulation, autonomic dysfunction, sleep disorders, dystonia, nasal congestion, feeding problems, and intellectual disability. The onset of initial symptoms can occur from the neonatal period up to 12 months of age, with a mean onset of around 2-3 months. While most reported cases exhibit a severe phenotype characterized by profound motor developmental impairment, some individuals present with a milder to moderate phe...