EC Number   |
General Information |
Reference |
|---|
    4.1.1.28 | malfunction |
AADC deficiency is an autosomal recessive disorder caused by mutations in the AADC gene leading to severely reduced AADC activity. The condition presents early in life and is characterized by axial hypotonia, hypokinesia, choreoathetosis, developmentaldelay and episodes of dystonia, limb hypertonia and oculogyric crises |
705756 |
| 4.1.1.28 | malfunction |
aromatic L-amino acid decarboxylase (AADC) deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder caused by a deficit of the AADC that is involved in serotonin and dopamine biosynthesis, causing serotonin and dopamine deficits, but also a lack of norepinephrine and epinephrine, given that dopamine is their precursor. The mutation S250F causes permanent dystonic posture at the 4 limbs with numbness and tingling, diplopia, and low potassium levels, mood problems, fever, bradycardia alternating with atrial and ventricular fibrillation, loss of consciousness, involuntary parossistic eye and head movements, bilateral ptosis, oculogyric crises with dystonia of the head, muscle hypotrophy, and absent deep tendon reflexes. The phenotypic spectrum of AADCD is broad and can range from very severe to relatively mild, overview |
748545 |
| 4.1.1.28 | malfunction |
aromatic L-amino acid decarboxylase deficiency is characterized by oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since early infancy |
702954 |
| 4.1.1.28 | malfunction |
gene-disease associations and common pathologies, detailed overview |
748845 |
| 4.1.1.28 | metabolism |
the enzyme is involved in biosynthesis of terpenoidindole alkaloids |
743890 |
| 4.1.1.28 | metabolism |
the enzyme is involved in terpenoid indole alkaloid (TIA) biosynthetic pathway |
743812 |
| 4.1.1.28 | more |
structural and functional analogies and differences between histidine decarboxylase (EC 4.1.1.22) and aromatic L-amino acid decarboxylase molecular networks, overview. Human histidine decarboxylase (HDC) and dopa decarboxylase (DDC) are highly homologous enzymes responsible for the synthesis of biogenic amines (BA) like histamine, and serotonin and dopamine, respectively |
748845 |
| 4.1.1.28 | physiological function |
aromatic L-amino acid decarboxylase (AADC) is an essential enzyme in the synthesis of serotonin, dopamine, and certain trace amines and is active in a variety of organs including the brain and spinal cord |
747840 |
| 4.1.1.28 | physiological function |
DDC is involved in the Tribolium cuticle sclerotization and pigmentation pathway, and is a candidate for the gene that is mutated in black |
704491 |
| 4.1.1.28 | physiological function |
DDC modulates the immune responses such as hemocytes encapsulation as well as the reactive oxygen species level through its catalytic activity, functioning as an indispensable immunomodulating enzyme in the neuroendocrine-immune regulatory network of mollusk |
716702 |
