TY - JOUR
T1 - Screening urine of 3-week-old newborns
T2 - Transient methylmalonic and hydroxyphenyllactic aciduria
AU - Tuchman, Mendel
AU - McCann, Mark T.
AU - Thompson, Mark M.
AU - Tsai, Michael Y.
AU - Giguere, Robert
AU - Lemieux, Bernard
N1 - 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.
PY - 1992/8
Y1 - 1992/8
N2 - 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.
AB - 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.
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U2 - 10.1016/0885-4505(92)90049-5
DO - 10.1016/0885-4505(92)90049-5
M3 - Article
C2 - 1524871
AN - SCOPUS:0026726734
SN - 0885-4505
VL - 48
SP - 64
EP - 68
JO - Biochemical Medicine and Metabolic Biology
JF - Biochemical Medicine and Metabolic Biology
IS - 1
ER -