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Literature summary extracted from

  • Lee, H.F.; Tsai, C.R.; Chi, C.S.; Chang, T.M.; Lee, H.J.
    Aromatic l-amino acid decarboxylase deficiency in Taiwan (2008), Eur. J. Paediatr. Neurol., 13, 135-140.
    View publication on PubMed

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
4.1.1.28 5-Hydroxytryptophan Homo sapiens
-
 Serotonin + CO2
-
 ?
4.1.1.28 L-Dopa Homo sapiens second enzyme in the catecholamine biosynthetic pathway that catalyzes the synthesis of important neurotransmitters dopamine + CO2
-
 ?
4.1.1.28 additional information Homo sapiens AADC deficiency leads to severe floppiness, oculogyric crises, athetoid movement, prominent startle response, tongue thrusting, ptosis, paroxysmal diaphoresis, nasal congestion, diarrhea, irritability and sleep disorders, patients with AADC deficiency in Taiwan have particular clinical manifestations of small hands and feet ?
-
 ?
4.1.1.28 additional information Homo sapiens deficiency of the enzyme leads to a reduced level of downstream biogenic amines, including dopamine, norepinephrine, epinephrine and serotonin, which plays a potential pathophysiological role in disorders of psychomotor modulation, maladjustment in sleep pattern, body temperature, cardiovascular, respiratory, and gastrointestinal systems ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
4.1.1.28 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
4.1.1.28 blood sample source for DNA isolation from patients with AADC deficiency Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4.1.1.28 5-Hydroxytryptophan
-
 Homo sapiens Serotonin + CO2
-
 ?
4.1.1.28 L-Dopa second enzyme in the catecholamine biosynthetic pathway that catalyzes the synthesis of important neurotransmitters Homo sapiens dopamine + CO2
-
 ?
4.1.1.28 additional information AADC deficiency leads to severe floppiness, oculogyric crises, athetoid movement, prominent startle response, tongue thrusting, ptosis, paroxysmal diaphoresis, nasal congestion, diarrhea, irritability and sleep disorders, patients with AADC deficiency in Taiwan have particular clinical manifestations of small hands and feet Homo sapiens ?
-
 ?
4.1.1.28 additional information deficiency of the enzyme leads to a reduced level of downstream biogenic amines, including dopamine, norepinephrine, epinephrine and serotonin, which plays a potential pathophysiological role in disorders of psychomotor modulation, maladjustment in sleep pattern, body temperature, cardiovascular, respiratory, and gastrointestinal systems Homo sapiens ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
4.1.1.28 AADC
-
 Homo sapiens
4.1.1.28 Aromatic L-amino acid decarboxylase
-
 Homo sapiens