Version: 8.0.0
Date: Tue Jan 28 2025
aromatic L-amino acid decarboxylase deficiency
DOID:0090123
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

aromatic L-amino acid decarboxylase deficiency

Definition
An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.
Synonyms
  • AADC deficiency
Cross References
Parent Terms
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None
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