Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

doi:10.1016/j.ymgme.2023.107624

Article

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Molecular genetics and metabolism - 1 Jul 2023

Himmelreich Nastassja, Bertoldi Mariarita, Alfadhel Majid, Alghamdi Malak Ali, Anikster Yair, Bao Xinhua, Bashiri Fahad A, Zeev Bruria Ben, Bisello Giovanni, Ceylan Ahmet Cevdet, Chien Yin-Hsiu, Choy Yew Sing, Elsea Sarah H, Flint Lisa, García-Cazorla Àngels, Gijavanekar Charul, Gümüş Emel Yılmaz, Hamad Muddathir H, Hişmi Burcu, Honzik Tomas, Hübschmann Oya Kuseyri, Hwu Wuh-Liang, Ibáñez-Micó Salvador, Jeltsch Kathrin, Juliá-Palacios Natalia, Kasapkara Çiğdem Seher, Kurian Manju A, Kusmierska Katarzyna, Liu Ning, Ngu Lock Hock, Odom John D, Ong Winnie Peitee, Opladen Thomas, Oppeboen Mari, Pearl Phillip L, Pérez Belén, Pons Roser, Rygiel Agnieszka Magdalena, Shien Tan Ee, Spaull Robert, Sykut-Cegielska Jolanta, Tabarki Brahim, Tangeraas Trine, Thöny Beat, Wassenberg Tessa, Wen Yongxin, Yakob Yusnita, Yin Jasmine Goh Chew, Zeman Jiri, Blau Nenad

Abstract excerpt

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and epinephrine, and serotonin. Diagnosis is based on the analysis of CSF or plasma metabolites, AADC activity in plasma and genetic testing for variants in the DDC gene. The exact prevalence of AADC deficiency, the number of patients, and...

Topics

Prevalence
Aromatic-L-Amino-Acid Decarboxylases
Amino Acids
Amino Acid Metabolism, Inborn Errors

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Abstract excerpt

Topics

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