Camayd VI, Robaina JZ, Contreras RJ, Jiménez TI, Fuentes CI

Language: Spanish
References: 8
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ABSTRACT

Propionic acidemia is an inherited metabolic disease caused by a deficiency in the propionyl- CoA carboxilase, a biotin-dependent mitochondrial enzyme. The disorder is a clinically heterogeneous disease and one of the most frequently occurring organic acidurias. We report the first Cuban case with a severe form of propionic acidemia followed by acidosis and death. The diagnosis was carried out by gas chromatography coupled to mass spectrometry. Our aim is to highlight the importance of organic acids urine analysis as part of the first laboratory tests in undiagnosed seriously ill children. The definitive diagnosis is important as it serves as a clear guideline to establish a suitable treatment and allows geneticists to provide patients with a proper genetic counseling.

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