Transient galactosemia detected by neonatal mass screening

Ono, Hiroaki; Mawatari, Hideo; Mizoguchi, Nobuyuki; Eguchi, Takaatsu; Sakura, Nobuo; Hamakawa, Mochiyuki

doi:10.1046/j.1442-200x.1999.01070.x

Cited by 5 publications

(6 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Portal-venous shunts have also been reported to cause hyperammonaemia and encephalopathy in addition to hyper-galactosaemia (10). However, in the studies from Ono et al, none of their infants exhibited hyperammonaemia, neurological signs or cataract formation, and most of the " shunts" disappeared before the age of 1 y (11,12).…”

Section: Discussionmentioning

confidence: 99%

“…In mass screening for congenital, hereditary galactosaemia, some infants have been found to have a transient " alimentary galactosaemia", which was thought to be due to portal-venous shunts (11,12). Portal-venous shunts have also been reported to cause hyperammonaemia and encephalopathy in addition to hyper-galactosaemia (10).…”

Section: Discussionmentioning

confidence: 99%

“…Both in term and preterm infants, an increased ow velocity in the superior mesenteric artery is found after enteral feeding (7-9), and can as such be used for evaluation of digestion and absorption from the small intestine. An alimentary hypergalactosaemia has been reported in early infancy due to a possible congenital portalsystemic shunt (10)(11)(12).…”

mentioning

confidence: 99%

See 2 more Smart Citations

Patent ductus venosus does not lead to alimentary galactosaemia in preterm infants

Fugelseth

Guthenberg²,

Hagenfeldt³

et al. 2001

Acta Paediatrica

View full text Add to dashboard Cite

The aim of this study was to investigate if an open ductus venosus representing a portal‐caval shunt can lead to transient “alimentary galactosaemia” in preterm infants fed human breast milk. Twenty‐six preterm infants (28–34 wk of gestational age) with open ductus venosus were included. Capillary blood samples for measurement of galactose and glucose were collected before, 30 and 50 min after a meal with breast milk (range 12–23 mL/kg). Ultrasound studies of the blood flow in the ductus venosus, truncus coeliacus, superior mesenteric artery and left hepatic vein were performed before and 30 min after the meal. There was a significant rise in blood glucose after 30 and 50 min, indicating a sufficient lactose load. Galactose, however, was either not detectable or was just above the detectable limit (0.1–0.4 mmol/L), with no changes after the meal. An increased flow velocity was found in the ductus venosus and superior mesenteric artery after 30 min (p≫ 0.001) indicating increased entero‐hepatic and portal‐caval shunting. Conclusion: A patent ductus venosus does not lead to a significant hypergalactosaemia in preterm infants fed human breast milk. Thus, in respect to breast‐milk feeding, this is regarded safe in healthy preterm infants even with an open ductus venosus. The increased portal‐caval shunting may, however, influence the hepatic metabolism of other enterally absorbed substances.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Patent ductus venosus does not lead to alimentary galactosaemia in preterm infants

Fugelseth

Guthenberg²,

Hagenfeldt³

et al. 2001

Acta Paediatrica

View full text Add to dashboard Cite

show abstract

“…A group of 18 normal neonates (age range 18±28 days, median, 22 days) were studied as controls. We determined causes of hypergalactosaemia using assays of Galmetabolising enzyme activities in RBC [12], liver function tests, and, when necessary, abdominal ultrasonography. Patients were de®ned as having transient galactosaemia when (1) whole blood Gal concentrations exceeded 8 mg/dl in the ®rst and second examinations by the Paigen method (at ca.…”

Section: Methodsmentioning

confidence: 99%

“…Since the Paigen method measures the sum of galactose (Gal) and its metabolites in whole blood, hypergalactosaemic cases detected in this manner have a variety of diagnoses, as we have reported [10,12,15]. We believe that assay of individual Gal metabolites in blood is useful for understanding this heterogenity, but the diagnostic value of these analyses has not been investigated.…”

Section: Introductionmentioning

confidence: 99%

Galactose metabolites in blood from neonates with and without hypergalactosaemia detected by mass screening

et al. 2000

Self Cite

View full text Add to dashboard Cite

show abstract

Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead

et al. 2014

View full text Add to dashboard Cite

It has been 50 years since the first newborn screening (NBS) test for galactosemia was conducted in Oregon, and almost 10 years since the last US state added galactosemia to their NBS panel. During that time an estimated >2,500 babies with classic galactosemia have been identified by NBS. Most of these infants were spared the trauma of acute disease by early diagnosis and intervention, and many are alive today because of NBS. Newborn screening for galactosemia is a success story, but not yet a story with a completely happy ending. NBS, follow-up testing, and intervention for galactosemia continue to present challenges that highlight gaps in our knowledge. Here we compare galactosemia screening and follow-up data from 39 NBS programs gathered from the states directly or from public sources. On some matters the programs agreed: for example, those providing relevant data all identify classic galactosemia in close to 1/50,000 newborns and recommend immediate and lifelong dietary restriction of galactose for those infants. On other matters the programs disagree. For example, Duarte galactosemia (DG) detection rates vary dramatically among states, largely reflecting differences in screening approach. For infants diagnosed with DG, >80% of the programs surveyed recommend complete or partial dietary galactose restriction for the first year of life, or give mixed recommendations; <20% recommend no intervention. This disparity presents an ongoing dilemma for families and healthcare providers that could and should be resolved.

show abstract

Transient galactosemia detected by neonatal mass screening

Abstract: We found that the prognosis of transient galactosemia was almost always favorable. However, patients should be followed for at least 1 year, because late liver dysfunction, which might cause poor weight gain, occurred in 6% of our patients.

Cited by 5 publications

References 11 publications

Patent ductus venosus does not lead to alimentary galactosaemia in preterm infants

Patent ductus venosus does not lead to alimentary galactosaemia in preterm infants

Galactose metabolites in blood from neonates with and without hypergalactosaemia detected by mass screening

Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead

Contact Info

Product

Resources

About