Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging

J Inherit Metab Dis. 2004;27(1):11-8. doi: 10.1023/B:BOLI.0000016621.29854.d6.


The aetiology of hypergalactosaemia in 100 neonates detected by screening using the Paigen method is discussed. Hypergalactosaemia was transient in 94 cases and persistent in 6. The aetiology among transient cases was unknown in 55, delayed closure of the ductus venosus in 19, heterozygous UDP-galactose 4-epimerase (GALE) deficiency in 16, and heterozygous galactose-1-phosphate uridyltransferase (GALT) deficiency in 6. The aetiology among persistent cases was hepatic haemangioendothelioma with portovenous shunting in 2, and patent ductus venosus with hypoplasia of the intrahepatic portal vein, citrin deficiency, homozygous GALE deficiency, and heterozygous GALE deficiency in one patient each. The abnormalities of the portal system were identified ultrasonographically at the initial consultation and measurements of the total bile acid and alpha-fetoprotein concentrations were helpful in resolving the differential diagnosis. The causes of hypergalactosaemia varied, but a major cause was portosystemic shunt. Evaluation of patients with hypergalactosaemia should not be limited to enzymatic analysis, but should also include hepatic imaging, especially ultrasonography. Additionally, determination of total bile acids and alpha-fetoprotein is helpful in identifying the aetiology of hypergalactosaemia in infants.

MeSH terms

  • Acute Disease
  • Bile Acids and Salts / blood
  • Chronic Disease
  • Galactose / administration & dosage
  • Galactosemias / blood
  • Galactosemias / diagnosis*
  • Galactosemias / diet therapy
  • Galactosemias / etiology
  • Hemangioendothelioma / complications
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Liver Neoplasms / complications
  • Mass Screening*
  • Metabolism, Inborn Errors / genetics
  • Portal System / abnormalities
  • Portal System / diagnostic imaging
  • Portal Vein / diagnostic imaging*
  • Severity of Illness Index
  • UDPglucose 4-Epimerase / deficiency
  • UDPglucose 4-Epimerase / genetics
  • UTP-Hexose-1-Phosphate Uridylyltransferase / deficiency
  • Ultrasonography, Doppler, Color*
  • alpha-Fetoproteins / analysis


  • Bile Acids and Salts
  • alpha-Fetoproteins
  • UTP-Hexose-1-Phosphate Uridylyltransferase
  • UDPglucose 4-Epimerase
  • Galactose