Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.

Molecular genetics and metabolism - 1 Dec 2022

Himmelreich Nastassja, Montioli Riccardo, Garbade Sven F, Kopesky Jeffrey, Elsea Sarah H, Carducci Carla, Voltattorni Carla B, Blau Nenad

Abstract excerpt

Pathogenic variants in dopa decarboxylase (DDC), the gene encoding the aromatic l-amino acid decarboxylase (AADC) enzyme, lead to a severe deficiency of neurotransmitters, resulting in neurological, neuromuscular, and behavioral manifestations clinically characterized by developmental delays, oculogyric crises, dystonia, and severe neurologic dysfunction in infancy. Historically, therapy has been aimed at...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Metabolism, Inborn Errors
Share to Amino Acids

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Dopa Decarboxylase

Share to Genetic Variation

Share to Neurotransmitter Agents

Source

Identifiers

PMID: 36427457
DOI: 10.1016/j.ymgme.2022.11.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.PMID 36427457Read ↗

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

Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype.Semantic proximity Read ↗

Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.Semantic proximity Read ↗

Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.Semantic proximity Read ↗

Mild form of aromatic L-amino acid decarboxylase deficiency.Semantic proximity Read ↗

Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population.Semantic proximity Read ↗

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.Semantic proximity Read ↗

Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.Semantic proximity Read ↗

Next-generation sequencing reveals alternative L-DOPA decarboxylase (DDC) splice variants bearing novel exons, in human hepatocellular and lung cancer cells.Semantic proximity Read ↗

Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings.Semantic proximity Read ↗

Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.Semantic proximity Read ↗

Unusually mild phenotype of AADC deficiency in 2 siblings.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.