Fortini YV, Sagarnaga ER, Vallejo EJ, Lara FY

Language: Spanish
References: 6
Page: 5-12
PDF size: 560.07 Kb.

ABSTRACT

The congenital metabolic diseases are a consequence of the biochemical alterations of genetic origin that result in the alteration of a protein. The majority of these diseases are autosomal recessive, with a limited number of asymptomatic carriers, but there are also those ruled by an autonomous dominant character inheritance or linked to the X chromosome. Molecular medicine in recent decades has allowed us to recognize most causes of genetic mutations alterations in the function of each metabolic pathway. A common characteristic of many congenital metabolic diseases is the possibility of dietary treatment and treatment with enzymatic replacement. Because of their low prevalence and their unspecific signs of presentation, they are often almost unknown diseases to the doctor. A case of a newborn with deficiency of 3 hydroxide 3 methylglutaric is presented whose diagnosis was made on the 16th day of life.

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