Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 648-652, 2012.
Artículo
en Chino
| WPRIM
| ID: wpr-232240
ABSTRACT
<p><b>OBJECTIVE</b>To analyze clinical data and gene mutations in 3 Chinese patients with tyrosinemia type I, and to explore the correlation between genotypes and phenotypes.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Secuencia de Bases
/
China
/
Tirosinemias
/
Pueblo Asiatico
/
Diagnóstico
/
Genética
/
Hidrolasas
/
Mutación
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Lactante
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2012
Tipo del documento:
Artículo
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