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Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: Clinical significance of portal vein imaging
Author(s) -
Nishimura Y.,
Tajima G.,
Bahagia A. Dwi,
Sakamoto A.,
Ono H.,
Sakura N.,
Naito K.,
Hamakawa M.,
Yoshii C.,
Kubota M.,
Kobayashi K.,
Saheki T.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000016621.29854.d6
Subject(s) - ductus venosus , medicine , portosystemic shunt , gastroenterology , etiology , neonatal cholestasis , differential diagnosis , galactosemia , hypoplasia , cirrhosis , portal hypertension , radiology , pathology , biology , galactose , fetus , liver transplantation , biochemistry , pregnancy , biliary atresia , genetics , transplantation
Summary: 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 α‐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 α‐fetoprotein is helpful in identifying the aetiology of hypergalactosaemia in infants.