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Article

Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders

by
Susanna Rizzi
1,
Carlotta Spagnoli
1,*,
Melissa Bellini
2,
Carlo Alberto Cesaroni
1,
Elisabetta Spezia
3,
Patrizia Bergonzini
3,
Elisa Caramaschi
3,
Luca Soliani
4,
Emanuela Claudia Turco
5,
Benedetta Piccolo
5,
Laura Demuth
6,
Duccio Maria Cordelli
4,7,
Giacomo Biasucci
2,
Daniele Frattini
1 and
Carlo Fusco
1
1
Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
2
Pediatrics and Neonatology Unit, Maternal and Child Health Department, Guglielmo da Saliceto Hospital, 29121 Piacenza, Italy
3
Pediatrics Unit, Department of Pediatrics, Azienda Ospedaliero-Universitaria Policlinico di Modena, 41125 Modena, Italy
4
U.O.C. Neuropsichiatria dell’età Pediatrica, IRCCS Istituto Delle Scienze Neurologiche di Bologna, 40138 Bologna, Italy
5
Child Neuropsychiatry Unit, Mother and Child Department, University-Hospital of Parma, 43126 Parma, Italy
6
R&D Biochemistry, Centogene GmbH, 18055 Rostock, Germany
7
Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Alma Mater Studiorum, Università di Bologna, 40138 Bologna, Italy
*
Author to whom correspondence should be addressed.
Genes 2023, 14(9), 1828; https://doi.org/10.3390/genes14091828
Submission received: 7 August 2023 / Revised: 15 September 2023 / Accepted: 18 September 2023 / Published: 21 September 2023
(This article belongs to the Section Neurogenomics)
Versions Notes

Abstract

Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. Adeno-associated viral vector-mediated gene transfer of the human DDC gene injected into the putamen is available. The typical presentation is characterized by early-onset hypotonia, severe developmental delay, movement disorders, and dysautonomia. Recently, mild and even atypical phenotypes have been reported, increasing the diagnostic challenge. The aim of this multicentric study is to identify the prevalence of AADCd in a population of patients with phenotypic clusters characterized by neurodevelopmental disorders (developmental delay/intellectual disability, and/or autism) by 3-O-methyldopa (3-OMD) detection in dried blood spots (DBS). It is essential to identify AADCd promptly, especially within non-typical phenotypic clusters, because better results are obtained when therapy is quickly started in mild-moderate phenotypes. Between 2021 and 2023, 390 patients with non-specific phenotypes possibly associated with AADCd were tested; none resulted in a positive result. This result highlights that the population to be investigated for AADCd should have more defined clinical characteristics: association with common signs (hypotonia) and/or pathognomonic symptoms (oculogyric crisis and dysautonomia). It is necessary to continue to screen selected clusters for reaching diagnosis and improving long-term outcomes through treatment initiation. This underscores the role of newborn screening in identifying AADCd.
Keywords: AADC; Aromatic L-amino-acid decarboxylase deficiency; neurodevelopmental disorder; metabolic disease AADC; Aromatic L-amino-acid decarboxylase deficiency; neurodevelopmental disorder; metabolic disease

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MDPI and ACS Style

Rizzi, S.; Spagnoli, C.; Bellini, M.; Cesaroni, C.A.; Spezia, E.; Bergonzini, P.; Caramaschi, E.; Soliani, L.; Turco, E.C.; Piccolo, B.; et al. Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders. Genes 2023, 14, 1828. https://doi.org/10.3390/genes14091828

AMA Style

Rizzi S, Spagnoli C, Bellini M, Cesaroni CA, Spezia E, Bergonzini P, Caramaschi E, Soliani L, Turco EC, Piccolo B, et al. Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders. Genes. 2023; 14(9):1828. https://doi.org/10.3390/genes14091828

Chicago/Turabian Style

Rizzi, Susanna, Carlotta Spagnoli, Melissa Bellini, Carlo Alberto Cesaroni, Elisabetta Spezia, Patrizia Bergonzini, Elisa Caramaschi, Luca Soliani, Emanuela Claudia Turco, Benedetta Piccolo, and et al. 2023. "Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders" Genes 14, no. 9: 1828. https://doi.org/10.3390/genes14091828

APA Style

Rizzi, S., Spagnoli, C., Bellini, M., Cesaroni, C. A., Spezia, E., Bergonzini, P., Caramaschi, E., Soliani, L., Turco, E. C., Piccolo, B., Demuth, L., Cordelli, D. M., Biasucci, G., Frattini, D., & Fusco, C. (2023). Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders. Genes, 14(9), 1828. https://doi.org/10.3390/genes14091828

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