A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.
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.
Department of Neurology, Haukeland University Hospital, Bergen, Norway. haugarvoll@gmail.com
Kristoffer
K
Haugarvoll
Laurence A
LA
Bindoff
D000328:Adult; D001120:Arginine / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology*; D010641:Phenotype; D011392:Proline / Q000235:genetics; D014446:Tyrosine 3-Monooxygenase / Q000172:deficiency / Q000235:genetics*
D001120:Arginine; D011392:Proline; D014446:Tyrosine 3-Monooxygenase