Alagille syndrome (AGS) is an autosomal dominant disorder of chronic cholestasis
characterized by paucity of interlobular bile ducts. The condition has been described only as …

Glutaric aciduria type II (GAII) is a rare inborn error of metabolism clinically classified into a
neonatal-onset form with congenital anomalies, a neonatal-onset form without congenital …

Introduction Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic
autoinflammatory disease, whose clinical phenotype was expanded since the first cases …

Background Mutations in the 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene have been
recently identified in patients with atypical primary hyperoxaluria (PH). However, it was not …

Metabolism of glucose through the pentose phosphate pathway (PPP) influences the
development of diverse pathologies. Hemolytic anemia due to deficiency of PPP enzyme …

Abstract Δ 4-3-Oxosteroid 5β-reductase (AKR1D1) deficiency typically causes severe
cholestasis occurs in newborns, leading to death unless patients are treated with primary …

Background While chronic diarrhea is costly, drug-induced enteropathy is a treatable
etiology if identified. Olmesartan has been reported to cause chronic diarrhea since 2012 …

Background: GATA6 mutations are the most frequent cause of pancreatic agenesis and
diabetes in human sporadic cases. In families, dominantly inherited mutations show a …

A 41-year-old healthy female underwent cholecystectomy due to symptomatic gallstone
related acute cholecystitis. A week later she was readmitted with fatigue, low grade fever …

Background Congenital bile acid synthesis disorder type 3 caused by oxysterol 7α-
hydroxylase deficiency is an extremely rare genetic liver disease. As it may cause rapid …