Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report
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...
Main Authors: | Zoe Maria Dominique Reyes, Emma Lynch, Julia Henry, Lenika Marina De Simone, Sarah A. Sobotka |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2023-04-01
|
Series: | BMC Medical Genomics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12920-023-01510-1 |
Similar Items
-
The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants
by: Bo Bi, et al.
Published: (2024-01-01) -
Clinical Exome Sequencing in Patients with Undifferentiated General Developmental Delay and Intellectual Disabilities
by: Dmitriy V. I, et al.
Published: (2023-06-01) -
Burden of autism spectrum disorders in North Africa and Middle East from 1990 to 2019: A systematic analysis for the Global Burden of Disease Study 2019
by: Sepideh Ebrahimi Meimand, et al.
Published: (2023-07-01) -
Effectiveness of Chloral Hydrate on Brain MRI in Children with Developmental Delay/Intellectual Disability Comparing with Normal Intelligence: Single Tertiary Center Experience
by: Ja Un Moon, et al.
Published: (2021-11-01) -
Current practice and adaptations being made for people with autism admitted to in-patient psychiatric services across the UK
by: Keir Jones, et al.
Published: (2021-05-01)