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2012, Number 1

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Rev Cub Gen 2012; 6 (1)

Transitory neonatal tyrosinemia: biochemical diagnosis of one case

Contreras RJ, Alonso JE, Camayd VI, Hernández CO, De la Peña D, Nogueras L

Language: Spanish
References: 21
Page: 57-60
PDF size: 727.94 Kb.


ABSTRACT

The transitory neonatal tyrosinemia is characterized by high levels of tyrosine in blood and high urinary excretion of tyrosine and their metabolites. This is a non-hereditary disease, which principal possible causes are either the immaturity or deficiency of p-hydroxiphenylpiruvate oxidase hepatic enzyme, produced by variations in its perinatal formation, a high phenylalanine or tyrosine consumption or an ascorbic acid deficiency. In order to obtain a diagnosis, several laboratory methods of analyses were applied, including thin layer chromatography, high performance liquid chromatography and gas chromatography combined with mass spectrometry. The biochemical findings leading to a case diagnosis with transitory neonatal tyrosinemia are presented.


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