Elevated plasma bile acids in hypergalactosaemic neonates: a diagnostic clue to portosystemic shunts

Abstract

Increased plasma levels of total bile acids serve as a diagnostic clue to the presence of portosystemic shunts in neonates with hypergalactosaemia.

Clinical features of congenital portosystemic shunt in children

“…Congenital portosystemic shunt (CPSS) is a rare disorder that may cause intrauterine growth retardation (IUGR) [1], galactosemia [5,7,10,15], neonatal cholestasis [15], and hepatic encephalopathy [14]. CPSS has potentials to develop hepatic tumors, hepatopulmonary syndrome [4], and pulmonary hypertension [12].…”

Premature Pubarche, Hyperinsulinemia and Hypothyroxinemia: Novel Manifestations of Congenital Portosystemic Shunts (Abernethy Malformation) in Children

“…As a result, intestinal and splenic venous blood bypasses the liver and drains into systemic veins. Clinical presentation, although variable, is usually with neonatal cholestasis, hyperammonemia, hepatic encephalopathy and elevated liver transaminases [1,2,3,4,5]. In some cases, the diagnosis is made in those who present with associated problems such as heart disease [6], portopulmonary hypertension [7] or neuropsychiatric symptoms [8].…”

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

“…Although speci®c diagnoses are dicult to make from values for Gal metabolites in blood, these metabolites re¯ect underlying conditions to some extent. Patients with high plasma Gal concentrations should undergo imaging of the liver [10,15].…”

“…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.…”