KEGG   VARIANT: 1644v1
Entry
1644v1                      Variant                                
Name
DDC deficiency
Type
Loss of function
Gene
DDC  dopa decarboxylase [KO:K01593]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 107930
Network
nt06028  Dopamine and serotonin metabolism
nt06544  Neuroactive ligand signaling
Disease
H01161  Aromatic L-amino acid decarboxylase deficiency
Drug target
Eladocagene exuparvovec: D12407<US>
Reference
PMID:31104889
  Authors
Montioli R, Battini R, Paiardini A, Tolve M, Bertoldi M, Carducci C, Leuzzi V, Borri Voltattorni C
  Title
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.
  Journal
Mol Genet Metab 127:132-137 (2019)
DOI:10.1016/j.ymgme.2019.05.004
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