Domino liver transplantation for maple syrup urine disease in children: A single-center case series.

BACKGROUND: Domino liver transplant (DLT) represents another type of liver donor to expand the donor pool. Recent reports of successful DLT in children with maple syrup urine disease (MSUD) show promising long-term outcomes. METHODS: It was a retrospective study. All children with MSUD were paired with either recipients with end-stage liver disease (ESLD) or non-MSUD metabolic disease. Each pair underwent simultaneous liver transplant (LT), where the MSUD recipient received the graft from a living-related donor and the liver explanted from the MSUD donor was transplanted to the respective paired domino recipient. We report our experience regarding the techniques and outcomes of DLT at our center. RESULTS: Eleven children with MSUD and 12 respective DLT recipients were enrolled, one of which was domino split-liver transplantation. DLT recipients included seven ESLD, two propionic acidemia (PA), one glycogen storage disease(GSD) type-1, one GSD type-3, and one Citrullinemia. Post-LT ICU and hospital stays were comparable (p > .05). Patient and graft survival was 100% and 66.6% in the MSUD group and DLT recipients at a mean follow-up of 13.5 and 15 months. There was no death in the MSUD group as compared to four in the DLT group. The amino acid levels rapidly normalized after the LT in the children with MSUD and they tolerated the normal unrestricted diet. No vascular, biliary, or graft-related complications were seen in the post-transplant period. No occurrence of MSUD was noted in DLT recipients. CONCLUSION: DLTs have excellent post-surgical outcomes. DLT should be strongly considered and adopted by transplant programs worldwide to circumvent organ shortage.

Incidence and clinical characteristics of pediatric inflammatory bowel disease in Oman.

Background: Pediatric inflammatory bowel disease (PIBD) has been documented all over the world, and there is now a large body of clinical, pathological, and treatment knowledge and protocols in place in many countries. There is currently limited knowledge on the prevalence and pathology of PIBD in Omani population. The aim of this study is to report the incidence and clinical features of PIBD in Oman. Methods: This was a retrospective, cross-sectional, multicenter study carried out on all children <13 years of age between January 1, 2010 and December 31, 2021. Results: Fifty-one children were identified, 22 males (43.1%) and 29 females (56.9%), who were mostly from the Muscat region of Oman. The median incidence in the country was 0.57 (confidence interval [CI]: 0.31-0.64) per 105 children for inflammatory bowel disease (IBD), 0.18 (CI: 0.07-0.38) per 105 children for ulcerative colitis (UC), and 0.19 (CI: 0.12-0.33) per 105 children for Crohn's disease (CD). There was a significant increase in the incidence of all PIBD types after the year 2015. Bloody diarrhea was the most common symptom, followed by abdominal pain. Perianal disease affected nine children (40.9%) with CD. Conclusion: The incidence of PIBD in Oman is lower than in some neighboring Gulf countries but similar to that of Saudi Arabia. An alarming upward trend was noted from the year 2015. Large-scale population-based studies are required to investigate the possible causes of this increasing incidence.

Clinical utility of methionine restriction in adenosine kinase deficiency.

Adenosine kinase (ADK) deficiency is a rare autosomal recessive inborn error of metabolism involving the methionine and purine metabolic pathways. Prior reports show that most patients present in infancy with jaundice, hypotonia, developmental delay, and mild dysmorphic features. Characteristic biochemical findings included hypoglycemic hyperinsulinism, cholestasis, elevated liver functions, methionine, S-adenosylhomocysteine, and S-adenosylmethionine, with normal or mildly elevated homocysteine level. Brain imaging demonstrated atrophy, hydrocephalus, and delayed myelination. There are 26 reported patients of ADK deficiency, of which 14 patients were placed on a methionine-restricted diet. Clinical improvement with methionine restriction was not well described. CASE REPORT: We report an infant who presented at birth with persistently elevated ammonia (100-163 µmol/L), hypoglycemia, cholestasis, and liver dysfunction. The initial metabolic and genetic work-up was nondiagnostic, with only a mildly increased plasma methionine level (51 [<38 µmol/L]). Iron depositions in the liver and in lip mucosa led to suspicion of gestational alloimmune liver disease. Immunoglobulin therapy and exchange transfusion treatments demonstrated transient clinical and biochemical improvements. However, subsequent episodes of acute liver failure with development of neurological abnormalities led to further evaluation. Metabolic studies showed a 25-fold increase in plasma methionine level at 8 months of life (1022 [<38 µmol/L]) with white matter abnormalities on brain MRI. Expanded molecular testing identified the disease. Urinary purines profile showed elevations of adenosine and related metabolites. Introduction of a low-methionine diet resulted in rapid clinical amelioration, improvement of brain MRI findings, and normalization of liver functions and methionine levels.