A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.
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Haugarvoll K, Bindoff LA
A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.
J Parkinsons Dis. 2011;1(1):119-22. doi: 10.3233/JPD-2011-11006.
- PubMed ID
- 23939262 [ View in PubMed]
- Abstract
Tyrosine hydroxylase (TH) is a tetrahydrobiopterin (BH4) dependent enzyme that catalyses the conversion of L-tyrosine to L-dopa, the rate-limiting step in the biosynthesis of dopamine. Autosomal recessive mutations in the TH gene cause impaired TH activity and are associated with phenotypes ranging from autosomal recessive dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. Herein, we present a patient with TH-deficiency due to two compound heterozygous missense mutations in the TH/gene, one of which is novel (p.R441P). A clinical update on TH-deficiency and clues on how to achieve a timely diagnosis of this highly treatable disorder is provided.