1998 Fiscal Year Final Research Report Summary
Screening of Galactosemia Heterozygote by the Analysis of Neonatal Urine using GC/MS
| Project/Area Number |
09670846
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Kanazawa Medical University |
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Principal Investigator |
SHINKA Toshihiro Medical Research Institute, Kanazawa Medical University, Associate Professor, 総合医学研究所, 助教授 (10098858)
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| Project Period (FY) |
1997 – 1998
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| Keywords | neonatal mass screening / gas chromatography / mass spectrometry (GC / MS) / galactosemia / galactosuria / heterozygote / urease / chemical diagnosis |
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| Research Abstract |
We determined urinary galactose and 4-hydroxyphenyllactic acid in 4,338 of 5-day-old newborns using a newly developed GC/MS screening method. Fifty-two infants were chemically diagnosed as having transient galactosuria based upon elevated urinary galactose levels (4.78-30.53mg/mg creatinine, control 1.10±0.89mg/mg creatinine). These infants did not excrete galactitol or galactonic acid into the urine, which is typical of hereditary galactosemia. Nearly 40% of the transient galactosuria was associated with immature infants (low birth weight or borne before 37 gestational weeks). Immature hepatic function is one explanation for neonatal transient galactosuria, but heterozygotes or the carriers of galactose degradation enzyme deficiencies were also suspected in some of the newborns, judging from the comparisons of urinary galactose and 4HPLA excretion between neonates and patients with galactosemia.
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