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Background: A congenital portosystemic shunt (CPSS) is defined as abnormal vascular communications between the portal vein and the systemic vein. Encephalopathy, hepatopulmonary syndrome, and portopulmonary hypertension are manifestations in patients with CPSS. Hyperinsulinemic hypoglycemia is also one of the manifestations of CPSS. Hyperinsulinemic hypoglycemia secondary to CPSS is caused by a lack of hepatic first‐pass elimination of insulin, which is secreted from pancreatic beta cells. Case Presentation: A 7‐month‐old boy had hypergalactosemia detected by newborn mass screening. Enhanced abdominal computed tomography showed the absence of the portal vein trunk and extrahepatic portosystemic communication between the superior mesenteric vein and the inferior vena cava. He had suffered from uncontrollable hyperinsulinemic hypoglycemia under protein and lactose restriction. We performed living donor liver transplantation (LDLT) using a left lateral segment graft from his father. The postoperative course was uneventful and the hypoglycemic attacks disappeared. Conclusion: We believe that uncontrolled hyperinsulinemic hypoglycemia secondary to CPSS is an indication of LDLT. [ABSTRACT FROM AUTHOR]

Background: POLG is one of several nuclear genes associated with mitochondrial DNA maintenance defects and is a group of diseases caused by mitochondrial DNA deficiency that results in impaired adenosine triphosphate production and organ dysfunction. Myocerebrohepatopathy spectrum (MCHS) is the most severe and earliest presentation of POLG mutations, and liver transplantation (LT) for MCHS has never been reported. Case presentation: The patient was a 3‐month‐old boy with acute liver failure and no neurological manifestations (e.g., seizures). We performed a living donor LT using a left lateral segment graft from his father. The postoperative course was uneventful. Subsequently, a homozygous POLG mutation (c.2890C>T, p. R964C) was identified by multigene analysis of neonatal/infantile intrahepatic cholestasis. Moreover, respiratory chain complex I, II, and III enzyme activities and the ratio of mtDNA to nuclear DNA in the liver were reduced. Therefore, we considered that these clinical manifestations and examination findings met the definition for MCHS. During meticulous follow‐up, the patient had shown satisfactory physical growth and mental development until the time of writing this report. Conclusion: We presumed that the absence of remarkable neurologic manifestations prior to LT in patients with MCHS is a good indication for LT and contributes to a better prognosis in the present case. [ABSTRACT FROM AUTHOR]

Global surveillance has been conducted to elucidate the pathogenesis of acute hepatitis of unknown origin (AHUO), However, the factors associated with the aggravation of this serious disease are unclear. Therefore, we conducted a HLA association study to identify HLA alleles or haplotypes predisposing or protective against Japanese AHUO. The HLA 5 locus (HLA‐A, HLA‐B, C, DRB1, and DQB1) 4‐digit genotyping results of 72 AHUO patients who underwent liver transplantation at our institution between 2000 and 2021 were compared to those of 873 healthy Japanese controls. Protective associations of HLA‐B*52:01 (p‐corrected (pc) = 3.15 × 10−3), HLA‐C*12:02 (pc = 1.66 ×10−3), HLA‐DQB1*06:01 (pc = 1.42 × 10−2), and HLA‐DRB1*15:02 (pc = 1.36 × 10−2) with severe AHUO in Japanese patients were observed. The amino acid residues of tryptophan at position 156, which are located in the antigen‐binding grooves of the HLA‐C protein, showed a protective association with AHUO, showing a significant difference from other amino acid variations (pc = 9.0 × 10−4). Furthermore, 5 amino acid residues of the HLA‐DQB1 protein were also protectively associated with AHUO with a significant difference from other amino acid variations (pc = 1.42 × 10−2 to 2.89 × 10−2). These alleles have a protective association with the aggravation of AHUO in the Japanese population. [ABSTRACT FROM AUTHOR]