Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
Amino Acid Metabolism, Inborn Errors
/ etiology
Aromatic-L-Amino-Acid Decarboxylases
/ chemistry
Biomarkers
Catalysis
Disease Susceptibility
Dopamine
/ metabolism
Homozygote
Humans
Models, Molecular
Mutation
Protein Conformation
Protein Interaction Domains and Motifs
Serotonin
/ metabolism
Structure-Activity Relationship
AADC deficiency
aromatic amino acid decarboxylase
dopa decarboxylase
pathogenic variants
pyridoxal 5′-phophate
rare disease
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
19 Mar 2021
19 Mar 2021
Historique:
received:
25
02
2021
revised:
15
03
2021
accepted:
16
03
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
29
4
2021
Statut:
epublish
Résumé
Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder caused by mutations in the
Identifiants
pubmed: 33808712
pii: ijms22063146
doi: 10.3390/ijms22063146
pmc: PMC8003434
pii:
doi:
Substances chimiques
Biomarkers
0
Serotonin
333DO1RDJY
Aromatic-L-Amino-Acid Decarboxylases
EC 4.1.1.28
Dopamine
VTD58H1Z2X
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Références
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