Publications by authors named "Kaori Fukui"
Patients with urea cycle disorders intermittently develop episodes of decompensation with hyperammonemia. Although such an episode is often associated with starvation and catabolism, its molecular basis is not fully understood. First, we attempted to elucidate the mechanism of such starvation-associated hyperammonemia.
View Article and Find Full Text PDFArticle Synopsis
- * The study included 229 patients with various types of UCDs and found that while growth impairment is common, Japanese UCD patients' heights were only slightly below the average for the general population.
- * Many patients, especially those with neonatal-onset UCDs, face challenges in employment and relationships, and those with cognitive disabilities require social support to improve their quality of life and societal participation.
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS2) deficiency is a metabolic disorder caused by mutations in the gene. The present study describes the identification of four cases of HMGCS2 deficiency in Japan. Hepatomegaly and severe metabolic acidosis were observed in all cases.
View Article and Find Full Text PDFDiabetes mellitus exacerbates citrin deficiency via glucose toxicity.
Diabetes Res Clin Pract
June 2020
Aims: Citrin is an aspartate/glutamate carrier that composes the malate-aspartate reduced nicotinamide adenine dinucleotide (NADH) shuttle in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), failure to thrive and dyslipidemia (FTTDCD) and adult-onset type II citrullinemia (CTLN2). Hepatic glycolysis is essentially impaired in citrin deficiency and a low-carbohydrate diet was recommended.
View Article and Find Full Text PDFArticle Synopsis
- An adult female patient with arginase 1 deficiency (ARG1-D) was diagnosed as a child and managed with a combination of protein restriction and sodium benzoate therapy, which initially controlled hyperammonemia but not hyperargininemia.
- After experiencing severe drops in serum albumin levels, her condition worsened until sodium phenylbutyrate (NaPB) therapy was introduced, leading to significant clinical and metabolic improvement.
- Current treatments for ARG1-D focus on reducing plasma arginine levels, utilizing nitrogen scavengers like NaPB to bypass the urea cycle and remove nitrogen, which helps prevent complications from low protein intake.
Background: Biliary atresia (BA) cases are generally not associated with congenital abnormalities. However, accurate diagnosis of BA is often challenging because the histopathological features of BA overlap with those of other pediatric liver diseases and rarely overlap with those of other genetic disorders. We experienced a rare case of BA with the histopathological finding of bile duct paucity, a gene mutation in KDM6A, and KS-like phenotypes.
View Article and Find Full Text PDF