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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.JI

Abstract

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.

Authors+Show Affiliations

Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, 1-2-3 Kasumi, Minami-Ku, Hiroshima, 734-8551, Japan. warabi@hiroshima-u.ac.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

14970742

Citation

Nishimura, Y, et al. "Differential Diagnosis of Neonatal Mild Hypergalactosaemia Detected By Mass Screening: Clinical Significance of Portal Vein Imaging." Journal of Inherited Metabolic Disease, vol. 27, no. 1, 2004, pp. 11-8.
Nishimura Y, Tajima G, Dwi Bahagia A, et al. 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.
Nishimura, Y., Tajima, G., Dwi Bahagia, A., Sakamoto, A., Ono, H., Sakura, N., Naito, K., Hamakawa, M., Yoshii, C., Kubota, M., Kobayashi, K., & Saheki, T. (2004). Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging. Journal of Inherited Metabolic Disease, 27(1), 11-8.
Nishimura Y, et al. 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. PubMed PMID: 14970742.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging. AU - Nishimura,Y, AU - Tajima,G, AU - Dwi Bahagia,A, AU - Sakamoto,A, AU - Ono,H, AU - Sakura,N, AU - Naito,K, AU - Hamakawa,M, AU - Yoshii,C, AU - Kubota,M, AU - Kobayashi,K, AU - Saheki,T, PY - 2004/2/19/pubmed PY - 2004/10/13/medline PY - 2004/2/19/entrez SP - 11 EP - 8 JF - Journal of inherited metabolic disease JO - J Inherit Metab Dis VL - 27 IS - 1 N2 - 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. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/14970742/Differential_diagnosis_of_neonatal_mild_hypergalactosaemia_detected_by_mass_screening:_clinical_significance_of_portal_vein_imaging_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=2004&volume=27&issue=1&spage=11 DB - PRIME DP - Unbound Medicine ER -