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Literature summary for 4.1.1.28 extracted from

  • Manegold, C.; Hoffmann, G.F.; Degen, I.; Ikonomidou, H.; Knust, A.; Laass, M.W.; Pritsch, M.; Wilichowski, E.; Hoerster, F.
    Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up (2009), J. Inherit. Metab. Dis., 32, 371-380.
    View publication on PubMed
Search for more literature for 4.1.1.28

Application

Application Comment Organism
medicine Development of therapy of patients with aromatic L-amino acid decarboxylase deficiency. Drug therapy in patients with AADC deficiency aims at correcting the central and peripheral deficiency of serotonin and catecholamines. Treatment is very challenging. There are no established treatment schemes or clear dosages for the individual drugs. Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
5-Hydroxytryptophan Homo sapiens
-
 Serotonin + CO2
-
 ?
L-Dopa Homo sapiens enzyme is central in the synthesis of biogenic monoamine neurotransmitters, these include serotonin as well as the catecholamines dopamine and norepinephrine (noradrenaline) dopamine + CO2
-
 ?
additional information Homo sapiens AADC follows the initial and rate-limiting step of synthesis, which is the formation of levodopa and 5-hydroxytryptophan from tyrosine and tryptophan by specific tetrahydrobiopterin-dependent hydroxylases ?
-
 ?
additional information Homo sapiens Aromatic L-amino acid decarboxylase deficiency is a disorder of biogenic amine metabolism resulting in generalized combined deficiency of serotonin, dopamine and catecholamines. Main clinical features are developmental delay, muscular hypotonia, dystonia, oculogyric crises and additional extraneurological symptoms ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
plasma from patients with aromatic L-amino acid decarboxylase deficiency Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
 enzyme activity is 0 pmol/ml plasma per min, patient 4 with AAAD deficiency (reference range 33-79 pmol/ml plasma per min) Homo sapiens
additional information
-
 enzyme activity is 0 pmol/ml plasma per min, patient 7 with AAAD deficiency (reference range 23-34 pmol/ml plasma per min) Homo sapiens
additional information
-
 enzyme activity is 0 pmol/ml plasma per min, patient 9 with AAAD deficiency (reference range 23-34 pmol/ml plasma per min) Homo sapiens
additional information
-
 enzyme activity is 0.2 pmol/ml plasma per min, patient 1 with AAAD deficiency (reference range 47-119 pmol/ml plasma per min) Homo sapiens
additional information
-
 enzyme activity is 0.6 pmol/ml plasma per min, patient 3 with AAAD deficiency (reference range 33-79 pmol/ml plasma per min) Homo sapiens
additional information
-
 enzyme activity is 0.6 pmol/ml plasma per min, patient 8 with AAAD deficiency (reference range 23-34 pmol/ml plasma per min) Homo sapiens
additional information
-
 enzyme activity is 1.6 pmol/ml plasma per min, patient 6 with AAAD deficiency (reference range 36-129 pmol/ml plasma per min) Homo sapiens
additional information
-
 enzyme activity is 4.0 pmol/ml plasma per min, patient 5 with AAAD deficiency (reference range 47-119 pmol/ml plasma per min) Homo sapiens
additional information
-
 enzyme activity is below 1 U/l plasma, patient 2 with AAAD deficiency (reference range 18-34 pmol/ml plasma per min) Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5-Hydroxytryptophan
-
 Homo sapiens Serotonin + CO2
-
 ?
L-Dopa enzyme is central in the synthesis of biogenic monoamine neurotransmitters, these include serotonin as well as the catecholamines dopamine and norepinephrine (noradrenaline) Homo sapiens dopamine + CO2
-
 ?
additional information AADC follows the initial and rate-limiting step of synthesis, which is the formation of levodopa and 5-hydroxytryptophan from tyrosine and tryptophan by specific tetrahydrobiopterin-dependent hydroxylases Homo sapiens ?
-
 ?
additional information Aromatic L-amino acid decarboxylase deficiency is a disorder of biogenic amine metabolism resulting in generalized combined deficiency of serotonin, dopamine and catecholamines. Main clinical features are developmental delay, muscular hypotonia, dystonia, oculogyric crises and additional extraneurological symptoms Homo sapiens ?
-
 ?

Synonyms

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

Cofactor

Cofactor Comment Organism Structure
pyridoxal 5'-phosphate (vitamin B6), patients with AAAD deficiency receives a therapeutic trial with pyridoxal-5'-phosphate, individual dosage varies between 150 and 4800 mg/day (20-160 mg/kg per day). 4 of 9 patients improved slightly on vitamin B6 (3 of them are siblings with a special L-dopa responsive mutation). There is no change in CSF neurotransmitter findings in all investigated patients. Side effects are predominantly gastrointestinal, such as nausea, vomiting and abdominal pain. Homo sapiens