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Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese

C M Mak1, C W Lam, T S Siu

  • 1Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China.

Molecular Genetics and Metabolism
|January 9, 2010
PubMed

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.

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