Screening urine of 3-week-old newborns: Transient methylmalonic and hydroxyphenyllactic aciduria

Mendel Tuchman, Mark T. McCann, Mark M. Thompson, Michael Y. Tsai, Robert Giguere, Bernard Lemieux

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Urinary methylmalonic acid (MMA) and 4-hydroxyphenyllactic acid (HPL) have been determined in 3345 and 2498 3-week-old newborns, respectively. Urine was collected onto filter paper and assayed by a rapid gas chromatography-mass spectrometry method. Forty-six infants (1.7%) had elevated MMA levels (>58.5 μg/mg creatinine, means + 5 SD) and 31 infants (1.2%) had elevated levels of HPL (>87.7 μg/mg creatinine, means + 5 SD). Fifteen infants with elevated values of MMA were retested from one to several months after the first test. In 12 infants the MMA levels normalized, while in the remaining three, elevated methylmalonic acid persisted. Nine infants with elevated values of HPL were retested, and in all except one, HPL levels normalized. No access to clinical evaluation of the infants was available. Transient methylmalonic aciduria and transient tyrosyluria affect a substantial number of infants and the clinical significance of this phenomenon has yet to be determined.

Original languageEnglish (US)
Pages (from-to)64-68
Number of pages5
JournalBiochemical Medicine and Metabolic Biology
Issue number1
StatePublished - Aug 1992

Bibliographical note

Funding Information:
This work was supported in part by Public Health Service Grant IROl-CA 46907 from the National Institutes of Health. We thank Drs. Leslie Robison and Ann Mertins for their help with the statistical analysis.


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