aromatic L-amino acid decarboxylase deficiency

Term ID

DOID:0090123

Synonyms

• AADC 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. (2)

References

• GARD:770
• ICD10CM:E70.81
• MESH:C537437
• NCI:C142085
• OMIM:608643
• ORDO:35708
• SNOMEDCT_US_2023_03_01:124600004
• UMLS_CUI:C1291564

Ontology

Human Disease   ( DOID:0090123 )