title: Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.
abstract: Tyrosine hydroxylase deficiency is a rare neurotransmitter disorder affecting the rate-limiting step in catecholamine biosynthesis. There are about 40 cases reported worldwide. Here, we report the biochemical and molecular findings of eight unrelated Chinese patients with tyrosine hydroxylase deficiency. We have identified eight novel mutations with 5 missense, 2 nonsense and 1 splicing mutations in the TH gene, namely p.R153X, p.R169X, p.G294R, p.G315S, p.A385V, p.I394T, p.G408R, and c.1163+5G>C. The mutations of the TH gene in Chinese are heterogeneous.
authors.affiliation: Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China.
authors.forename: C M
authors.initials: CM
authors.lastname: Mak
authors.forename: C W
authors.initials: CW
authors.lastname: Lam
authors.forename: T S
authors.initials: TS
authors.lastname: Siu
authors.forename: K Y
authors.initials: KY
authors.lastname: Chan
authors.forename: W K
authors.initials: WK
authors.lastname: Siu
authors.forename: W L
authors.initials: WL
authors.lastname: Yeung
authors.forename: J
authors.initials: J
authors.lastname: Hui
authors.forename: V C N
authors.initials: VC
authors.lastname: Wong
authors.forename: L C K
authors.initials: LC
authors.lastname: Low
authors.forename: C H
authors.initials: CH
authors.lastname: Ko
authors.forename: C W
authors.initials: CW
authors.lastname: Fung
authors.forename: S P
authors.initials: SP
authors.lastname: Chen
authors.forename: Y P
authors.initials: YP
authors.lastname: Yuen
authors.forename: H C
authors.initials: HC
authors.lastname: Lee
authors.forename: E
authors.initials: E
authors.lastname: Yau
authors.forename: B
authors.initials: B
authors.lastname: Chan
authors.forename: S F
authors.initials: SF
authors.lastname: Tong
authors.forename: S
authors.initials: S
authors.lastname: Tam
authors.forename: Y W
authors.initials: YW
authors.lastname: Chan
mesh_terms: D017668:Age of Onset; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004421:Dystonia / Q000235:genetics; D005260:Female; D005687:Galactorrhea / Q000235:genetics; D006719:Homovanillic Acid / Q000378:metabolism; D006723:Hong Kong; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D009154:Mutation; D014446:Tyrosine 3-Monooxygenase / Q000172:deficiency* / Q000235:genetics
chemical_list: D014446:Tyrosine 3-Monooxygenase; D006719:Homovanillic Acid