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[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].

Abstract

OBJECTIVE

To analyze clinical data and gene mutations in 3 Chinese patients with tyrosinemia type I, and to explore the correlation between genotypes and phenotypes.

METHODS

Three patients suspected with tyrosinemia I were tested by tandem mass spectrometry for the level of tyrosine, phenylalanine and succinylacetone in the blood, and by gas chromatography-mass spectrometry to determine the level of succinylacetone and organic acid in their urine. With the diagnosis established, the FAH gene was analyzed with polymerase chain reaction (PCR) and direct sequencing.

RESULTS

Two patients had acute onset of the disease, while another had subacute onset of the disease, with features including hepatomegaly and remarkably increased tyrosine and succinylacetone in the blood. Five mutations were detected in the FAH gene, which included c.455G>A (W152X), c.520C>T (R174X), c.974_976delCGAinsGC, c.1027 G>A (G343R) and c.1100 G>A (W367X), among which c.455G>A (W152X), c.974_976delCGAinsGC and c.1100 G>A (W367X) were not reported previously.

CONCLUSION

Tyrosinemia type I may be effectively diagnosed with the level of tyrosine and succinylacetone by tandem mass spectrometry and succinylacetone in the urine by gas chromatography mass spectrometry. Detection of underlying mutations mutations will be helpful for genetic counseling and further research.

Authors+Show Affiliations

Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P R China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article
Research Support, Non-U.S. Gov't

Language

chi

PubMed ID

23225041

Citation

Yang, Nan, et al. "[Analysis of Clinical Data and Genetic Mutations in Three Chinese Patients With Tyrosinemia Type I]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 29, no. 6, 2012, pp. 648-52.
Yang N, Han LS, Ye J, et al. [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012;29(6):648-52.
Yang, N., Han, L. S., Ye, J., Qiu, W. J., Zhang, H. W., Gong, Z. W., ... Gu, X. F. (2012). [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 29(6), pp. 648-52. doi:10.3760/cma.j.issn.1003-9406.2012.06.005.
Yang N, et al. [Analysis of Clinical Data and Genetic Mutations in Three Chinese Patients With Tyrosinemia Type I]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012;29(6):648-52. PubMed PMID: 23225041.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]. AU - Yang,Nan, AU - Han,Lian-shu, AU - Ye,Jun, AU - Qiu,Wen-juan, AU - Zhang,Hui-wen, AU - Gong,Zhu-wen, AU - Zhang,Ya-fen, AU - Wang,Yu, AU - Gu,Xue-fan, PY - 2012/12/11/entrez PY - 2012/12/12/pubmed PY - 2013/4/4/medline SP - 648 EP - 52 JF - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 29 IS - 6 N2 - OBJECTIVE: To analyze clinical data and gene mutations in 3 Chinese patients with tyrosinemia type I, and to explore the correlation between genotypes and phenotypes. METHODS: Three patients suspected with tyrosinemia I were tested by tandem mass spectrometry for the level of tyrosine, phenylalanine and succinylacetone in the blood, and by gas chromatography-mass spectrometry to determine the level of succinylacetone and organic acid in their urine. With the diagnosis established, the FAH gene was analyzed with polymerase chain reaction (PCR) and direct sequencing. RESULTS: Two patients had acute onset of the disease, while another had subacute onset of the disease, with features including hepatomegaly and remarkably increased tyrosine and succinylacetone in the blood. Five mutations were detected in the FAH gene, which included c.455G>A (W152X), c.520C>T (R174X), c.974_976delCGAinsGC, c.1027 G>A (G343R) and c.1100 G>A (W367X), among which c.455G>A (W152X), c.974_976delCGAinsGC and c.1100 G>A (W367X) were not reported previously. CONCLUSION: Tyrosinemia type I may be effectively diagnosed with the level of tyrosine and succinylacetone by tandem mass spectrometry and succinylacetone in the urine by gas chromatography mass spectrometry. Detection of underlying mutations mutations will be helpful for genetic counseling and further research. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/23225041/[Analysis_of_clinical_data_and_genetic_mutations_in_three_Chinese_patients_with_tyrosinemia_type_I]_ L2 - http://babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-i DB - PRIME DP - Unbound Medicine ER -