Importance of the early detection of innate errors of the metabolism. Experience of metabolic sifting in a 15 year-old period in the Hospital para el niño Poblano, Mexico

Ma de Lourdes Hurtado Hernández; Juan Manuel Aparicio Rodríguez; Margarita Barrientos Pérez; Víctor Hugo León Aguilar; Ma del Socorro Gutiérrez Rodríguez; Hortencia Chávez Oseki; José Mario Palma Guzmán; Enrique E Huitzil Muñoz

2009, Number 30

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Oral 2009; 10 (30)

Importance of the early detection of innate errors of the metabolism. Experience of metabolic sifting in a 15 year-old period in the Hospital para el niño Poblano, Mexico

Hurtado HML, Aparicio RJM, Barrientos PM, León AVH, Gutiérrez RMS, Chávez OH Palma GJM, Huitzil MEE

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Language: Spanish
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Page: 482-487
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ABSTRACT

Objective. The congenital inborn errors of metabolism (IEM) were identificables diseases for Garrod in 1908. Consanguinity was an importan issue if inheritance background was observed. At the beginning, albinism, cistinuria and porfiria were estudied.
Cases reported. 2 370 metabolic studies were performed, 102 clinical cases were associated to diferent inborn errors of metabolism. Some of the clinical symptoms were polymalformed muscle esqueletal and skull and dental dismorfies were presented. Those patients.
Conclusions. Actually, the IEM are defined as monogenic inherited diseases or mendelians, due to a metabolic error for a protein or enzime absence. It might be incompatible with the patient life and some times if the patient lives it will modify its quality of life, with craniofacial and dental malformations, as it can be seen in patients with mucopolysaccharidosis.