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Literature summary for 4.1.1.28 extracted from

  • Portaro, S.; Gugliandolo, A.; Scionti, D.; Cammaroto, S.; Morabito, R.; Leonardi, S.; Fraggetta, F.; Bramanti, P.; Mazzon, E.
    When dysphoria is not a primary mental state a case report of the role of the aromatic L-aminoacid decarboxylase (2018), Medicine (Baltimore), 97, e10953 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 4.1.1.28

Cloned(Commentary)

Cloned (Comment) Organism
DDC genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
E608D c.1824A>C, naturally occuring mutation in enzyme DDC Homo sapiens
G143D c.428G>A, naturally occuring mutation in enzyme DDC Homo sapiens
H632Q c.1896C>A, naturally occuring mutation in enzyme DDC Homo sapiens
I170L c.508A>C, naturally occuring mutation in enzyme DDC Homo sapiens
S143N c.428G>A, naturally occuring mutation in enzyme DDC Homo sapiens
S250F c.749C>T, naturally occuring mutation in enzyme DDC involved in the rare, autosomal recessive neurometabolic disorder of aromatic L-amino acid decarboxylase (AADC) deficiency (AADCD), lethal phenotype, detailed overview Homo sapiens
T58M c.173C>T, naturally occuring mutation in enzyme DDC Homo sapiens
V614A c.1841T>C or c.1338+7C>G, naturally occuring mutations in enzyme DDC Homo sapiens
V614A c.1841T>C, naturally occuring mutation in enzyme DDC Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
AADC
-
 Homo sapiens
aromatic L-aminoacid decarboxylase
-
 Homo sapiens
DDC
-
 Homo sapiens
dopamine decarboxylase
-
 Homo sapiens

General Information

General Information Comment Organism
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 Homo sapiens