Autism

Gene: DDC

Green List (high evidence)

Patients with aromatic L-amino acid decarboxylase deficiency (AADCD) suffer from developmental delay. In addition to delayed motor development, patients show delay in speech and cognitive development. Caregivers of patients report problems interacting with patients (no/poor eye fixation), which can be interpreted as autistic features. The key symptoms of hypotonia, hyperkinesia, dystonia and oculogyric crisis are not necessarily prominent as case reports of milder phenotypes indicate (Graziano, 2015). According to Himmelreich (2015) AADCD is underdiagnosed. That leads to the conclusion that severe phenotypes, with common symptoms, should have a good chance of being diagnosed, whereas milder forms could easily be missed.

Created: 25 Feb 2020, 1:16 p.m. | Last Modified: 25 Feb 2020, 1:16 p.m.

Panel Version: 0.15

Phenotypes
Aromatic L-amino acid decarboxylase deficiency 608643; floppy child; dystonia; hypotonia; developmental delay; oculogyric crisis

Publications

• 28100251
• 30952622
• 30689738
• 25597765
• 24788355

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/DDC

Created: 1 Apr 2019, 11:26 a.m.