Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population.

Abstract excerpt

Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease due to mutations in the ddc gene producing AADC, a homodimeric pyridoxal 5'-phosphate-dependent enzyme. The disorder is often fatal in the first decade and is characterized by profound motor impairments and developmental delay. In the last two years, there has been a net rise in the number of patients and variants identified, maybe...

Topics

• Amino Acid Metabolism, Inborn Errors
• Aromatic-L-Amino-Acid Decarboxylases
• Carboxy-Lyases
• Phenotype
• Phosphates
• Pyridoxal