Chávez-Ocaña S, Bravata-Alcántara JC, Sierra-Martínez M

Language: Spanish
References: 13
Page: 159-167
PDF size: 262.57 Kb.

ABSTRACT

The concept of inborn error of metabolism (EIM) was established by Garrod at the beginning of the 20th century, describing the cistitnuria, alkaptonuria, the pentosuria and albinism, knowledge has grown until today that there are more than 700 disorders defined as a group of diseases caused by a genetic mutation which has as its effect the production of an abnormal protein, which entails the alteration of the physiological functioning of the cell: depending on which altered function, effects physiopathological of the accumulation of non-metabolized substances depend on the degree of accumulation and its possible toxicity, the use of unusual or alternative metabolic pathways can produce new potentially toxic substances and the consequences derived from the deficiency of certain compounds depend on the degree of its essentiality. The clinical manifestations of these altered proteins will be very varied, and appear mainly in the early life stages, although they can also manifest in later times. This review would address the way in which we can suspect an EIM and if possible its management.

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