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

• Main Authors: Zoe Maria Dominique Reyes (Author), Emma Lynch (Author), Julia Henry (Author), Lenika Marina De Simone (Author), Sarah A. Sobotka (Author)
• Format: Book
• Published: BMC, 2023-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Tyrosine hydroxylase deficiency (THD) is a rare movement disorder with broad phenotypic expression caused by bi-allelic mutations in the TH gene, which encode for tyrosine hydroxylase (TH) protein. Some patients with THD have improvement in dystonia with carbidopa-levodopa, a syn...