Hernández MJA, Morales GP, Martínez NS

Language: Spanish
References: 6
Page: 193-195
PDF size: 52.34 Kb.

ABSTRACT

Introduction. Phenylketonuria (FCU) is an inborn error of metabolism due to hereditary deficiency of the enzyme phenylalanine hydroxylase causing accumulation of phenylalanine (Phe) in the tissues, causing global developmental delay. Its incidence in Mexico is 1:10,000 infants. Objective. To draw through a case the importance of neonatal screening for universal birth. Case report. Male that begins after 48 hours of life with postprandial vomiting, intestinal constipation, spitting up, colic and diaper rash, resulting in neonatal screening for Phe in 1624.37 µM, physical examination demonstrated very irritable, normal eyes, white skin, diaper rash, rest normal. It takes getting new neonatal screening with classic FCU diagnosis, treating with Phe free formula rich in tyrosine, take control of serum levels of Phe in a serial manner with rapid decrease of amino acid. Conclusion. FCU can be diagnosed early through neonatal screening, it is carried routinely in Mexico, however there are still children who are not done so is very important to know how to diagnose disease before there is neurological damage.

REFERENCES

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