Contreras RJ, Fuentes SLE, Robaina JZ

Language: Spanish
References: 11
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ABSTRACT

Histidinemia is a rare inherited metabolic disorder characterized by deficient histidase enzyme, which results in elevated histidine levels in blood, urine and cerebrospinal fluid and, sometimes, hyperalaninemia. Histidinemia clinical picture varies from mental retardation and speech disorders to absence of any symptoms. This disease can be diagnosed by histidine-level-in-blood-quantitating tests. In the following work the levels of Histidina were determined in neonatal dry blood to 348 samples in order to establish the reference intervals in the laboratory of this amino acid. The quantification of the samples was carried out using an ultra micro analytic method, previously validated in our laboratory for the quantification of Histidina in blood. The obtained reference interval (95% probability) in the laboratory was of 4, 59 -16, 74 mg/dL (296-1079 µM).

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