Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1977 Dec;52(12):943-6.
doi: 10.1136/adc.52.12.943.

Diagnosis of classical galactosaemia

A M Monk, A J Mitchell, D W Milligan, J B Holton
Case Reports

Diagnosis of classical galactosaemia

A M Monk et al. Arch Dis Child. 1977 Dec.

Abstract

We report a child with classical galactosaemia whose diagnosis was missed until 12 weeks of age. The limitations of urine screening tests are discussed and the wider use of a qualitative enzyme assay for screening is recommended. Reference ranges for a quantitative enzyme assay using 14galacoste-1-phosphate as substrate are presented.

PubMed Disclaimer

References

    1. J Pediatr. 1961 Dec;59:872-83 - PubMed
    1. J Biol Chem. 1951 Nov;193(1):265-75 - PubMed
    1. Pediatrics. 1974 May;53(5):768 - PubMed
    1. N Engl J Med. 1971 Apr 8;284(14):753-7 - PubMed
    1. J Lab Clin Med. 1966 Jul;68(1):137-41 - PubMed

Publication types

Substances

LinkOut - more resources