Deficiencia de lipasa ácida lisosomal, una enfermedad subdiagnosticada. Reporte de caso
DOI:
https://doi.org/10.52784/27112330.151Palabras clave:
lipasa, metabolismo de los lípidos, enfermedad de acumulación de colesterol éster, dislipidemia, hepatomegalia, cirrosis, hígado graso.Resumen
La deficiencia de lipasa ácida lisosomal (LAL-D) es una enfermedad rara de herencia autosómica recesiva, causada por mutaciones en el gen LIPA, localizado en el cromosoma 10 (10q23.31), la cual causa el acúmulo sistémico y progresivo de ésteres de colesterol y triglicéridos. Se han reportado más de 40 mutaciones en dicho gen, por lo cual las manifestaciones clínicas de la enfermedad son diversas, predominando la hepatopatía y la enfermedad cardiovascular de aparición temprana. Se han descrito pocos casos a nivel mundial de esta enfermedad. En este reporte se expone el caso de un paciente con LAL-D, quien inicialmente fue tratado como glucogenosis. Más tarde, se confirmaron las alteraciones en los lípidos séricos, la deficiencia de la enzima, así como la mutación correspondiente a dicha deficiencia enzimática.
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