BabyScreen+ newborn screening

Gene: TH

Green List (high evidence)

Tyrosine hydroxylase deficiency is associated with a broad phenotypic spectrum. Findings in mild cases can be limited intially to unilateral or asymmetric limb dystonia, postural tremor, or gait incoordination, however, progression over time may result in the classic dopa-responsive dystonic gait disorder. Diurnal variation of motor symptoms may be present, worse in the afternoon or evening. Children at the severe end of the spectrum are profoundly disabled from early infancy with developmental motor delay, truncal hypotonia, limb rigidity, and hypokinesia. Ptosis and/or oculogyric crises are common.

diagnosis can be confirmed by measuring CSF neurotransmitters - low HVA and MHPG; normal pterins

treatment with L-Dopa + carbidopa improves psychomotor/cognitive development/IQ; improves neurological manifestations; especially the infantile onset form

Created: 23 Dec 2022, 5:27 a.m. | Last Modified: 23 Dec 2022, 5:27 a.m.

Panel Version: 0.1643

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
dystonia; Parkinsonism; dev delay; hypotonia; oculogyric crises

Publications

• PMID: 20301610