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aromatic L-amino acid decarboxylase deficiency

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.
Uniprot Description An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive.
Disease Ontology Description An inherited metabolic disorder characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction with onset in infancy or childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DDC gene on chromosome 7p12.
Mondo Term and Equivalent IDs
MONDO:0012084:  aromatic L-amino acid decarboxylase deficiency
GARD:0000770: 
MESH:C537437: 
NCIT:C142085: 
Orphanet:35708: 
SCTID:237922009: