Literature summary for 4.1.1.28 extracted from

Chang, Y.T.; Sharma, R.; Marsh, J.L.; McPherson, J.D.; Bedell, J.A.; Knust, A.; Brautigam, C.; Hoffmann, G.F.; Hyland, K.
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency (2004), Ann. Neurol., 55, 435-438.

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	heterozygous for mutation G102S, mutation decreases the binding affinity for the substrate, clinical phenotype caused by aromatic L-amino acid decarboxylase deficiency	-

Source Tissue	Comment	Organism	Textmining
blood plasma	-	Homo sapiens	-

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Release 2023.1 (January 2023)