Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report.

Zoe Maria Dominique ReyesEmma LynchJulia HenryLenika Marina De SimoneSarah A Sobotka

Published in: BMC medical genomics (2023)

While ASD can stand alone as a clinical diagnosis, it is also a cardinal feature of other genetically-based neurological disorders. To our knowledge, this is the first case that describes a patient with both disorders. Perhaps THD may be among the genetic disorders linked with ASD.

Keyphrases

autism spectrum disorder
rare case
intellectual disability
attention deficit hyperactivity disorder
healthcare
machine learning
gene expression
deep learning
copy number
replacement therapy
dna methylation
working memory
blood brain barrier