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2006, Number 5

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Acta Pediatr Mex 2006; 27 (5)

Methylmalonic acidemia. Early and timely diagnosis. Report of a case

Berenice RC, Young-Sarmiento A, Ceballos-Vela C, López- Candiani C, Ibarra-González I, Vela-Amieva M

Language: Spanish
References: 8
Page: 289-292
PDF size: 211.66 Kb.


ABSTRACT

Inborn errors of metabolism are genetic diseases that alter normal metabolic function. These diseases are extremely rare and their clinical manifestations are very similar to those of other diseases of the neonatal period. Neonatologists must always have present the possibility of an inborn error of metabolism in any sick newborn and must request specialized laboratory tests to confirm or discard it. We present a case of methylmalonic acidemia who was diagnosed early and received timely treatment. This prevented neurologic complications and possibly even the risk of death.


REFERENCES

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