Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings Article Swipe
Berrin Monteleone
,
Keith Hyland
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1186/s12883-019-1596-8
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1186/s12883-019-1596-8
Background Aromatic l -amino acid decarboxylase (AADC) deficiency is a rare genetic disorder with heterogeneous phenotypic spectrum resulting from disease-causing variants in the dopa decarboxylase ( DDC ) gene. Consensus guidelines recommend dopamine agonists, monoamine oxidase inhibitors, and other symptomatic treatments, but most patients have an unrelenting disease course with no response to these therapies. Case presentation We describe 2 African American siblings with AADC deficiency and identify 2 DDC gene variants not previously associated with the disorder. The patients were evaluated for cognitive and neurologic impairments. Diagnosis of AADC deficiency was initially based on evaluation of urine and plasma metabolites, followed by targeted DDC gene sequencing. The first patient, a firstborn African American female, had moderate elevations of vanillactic and vanilpyruvic acids, and slight elevation of N-acetylvanilalanine in urine. The second patient, an African American female and younger sibling of the first patient, had low AADC enzyme activity and elevated 3- O -methyldopa levels in plasma. Genetic testing confirmed that both siblings possessed the same 2 DDC gene variants, which were identified as NM_000790.3: c.48C > A (p.Tyr16Ter) and NM_000790.3: c.116G > C (p.Arg39Pro). Conclusions This report describes 2 previously unknown patients with AADC deficiency and confirmed the presence of 2 DDC gene variants not previously associated with this disorder. Further research is needed to identify disease-modifying treatments for this devastating neurometabolic disorder. Gene therapy with a recombinant adeno-associated viral vector serotype 2 carrying the gene for the human AADC protein (AAV2-hAADC) is currently in clinical development.
Related Topics
Concepts
Aromatic L-amino acid decarboxylase
Medicine
Compound heterozygosity
Disease
Gene
Genetic enhancement
Dopamine
Internal medicine
Genetics
Allele
Biology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1186/s12883-019-1596-8
- https://bmcneurol.biomedcentral.com/track/pdf/10.1186/s12883-019-1596-8
- OA Status
- gold
- Cited By
- 7
- References
- 19
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2998769819
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2998769819Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1186/s12883-019-1596-8Digital Object Identifier
- Title
-
Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblingsWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2020Year of publication
- Publication date
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2020-01-09Full publication date if available
- Authors
-
Berrin Monteleone, Keith HylandList of authors in order
- Landing page
-
https://doi.org/10.1186/s12883-019-1596-8Publisher landing page
- PDF URL
-
https://bmcneurol.biomedcentral.com/track/pdf/10.1186/s12883-019-1596-8Direct link to full text PDF
- Open access
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://bmcneurol.biomedcentral.com/track/pdf/10.1186/s12883-019-1596-8Direct OA link when available
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Aromatic L-amino acid decarboxylase, Medicine, Compound heterozygosity, Disease, Gene, Genetic enhancement, Dopamine, Internal medicine, Genetics, Allele, BiologyTop concepts (fields/topics) attached by OpenAlex
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7Total citation count in OpenAlex
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2024: 1, 2023: 2, 2022: 3, 2021: 1Per-year citation counts (last 5 years)
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19Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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