Problems with the new born screen for galactosaemia

John I. Malone, Alicia Diaz Thomas, Kathleen Swan

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

The new born screen should identify asymptomatic children with a devastating disorder before the damage has occurred. One family had two children born with classical galactosaemia. The fi rst child, subject to a fl aw in the newborn screening program, was not detected, went into rapid liver failure and ultimately had a liver transplant. The second child was following the same devastating course when identifi ed by the new born screen with reduced galactose-1-phosphate uridyl transferase activity in a blood spot. The rapid response of the second child to removal of lactose and galactose from the diet resulted in signifi cant clinical improvement. If the screening test for an inborn genetic defect involves the measurement of enzyme activity in red blood cells, be sure the patient has only native red blood cells. The events leading to the failure of the galactosaemia screening test are reviewed, so physicians will be aware and avoid this problem.

Original languageEnglish (US)
JournalBMJ Case Reports
DOIs
StatePublished - Jan 1 2011
Externally publishedYes

Fingerprint

Galactosemias
UDPglucose-Hexose-1-Phosphate Uridylyltransferase
Erythrocytes
Liver Failure
Lactose
Galactose
Newborn Infant
Diet
Physicians
Transplants
Liver
Enzymes

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Problems with the new born screen for galactosaemia. / Malone, John I.; Diaz Thomas, Alicia; Swan, Kathleen.

In: BMJ Case Reports, 01.01.2011.

Research output: Contribution to journalArticle

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