Endocrine disorders, such as diabetes mellitus or thyroid dysfunction (both hypothyroidism
and hyperthyroidism) have been implicated as rare causes of persistent abnormalities in …

Here we present an interesting case of Barakat syndrome with resistant hyperkalemia due to
hyporeninemic hypoaldosteronism (Type 4 renal tubular acidosis). Barakat or HDR …

Background Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency (OMIM#
609016) is an autosomal recessive of mitochondrial fatty acid β-oxidation caused by biallelic …

Glutaric Acidemia type II is a rare hereditary metabolic disorder involving fatty acid oxidation
and amino acid metabolism. Symptoms can range from severe neonatal life-threatening …

Editor Alagille syndrome (AS) is characterized by five major features viz. peculiar facies,
chronic cholestasis, posterior embryotoxon, vertebral arch defects and peripheral pulmonary …

Abstract Aldo-keto reductase 1D1 (AKR1D1) deficiency, a rare but life-threatening form of
bile acid deficiency, has not been previously described in China. Here, we describe the first …

Summary Background In patients with Alagille syndrome, cholestasis-associated clinical
features can include high serum bile acids and severe pruritus that can necessitate liver …

Introduction: Little is known about bile acid transporter defects on the basolateral side of
hepatocytes. In 2015 Vaz et al. published a first case of SLC10A1 mutation causing Na …

Alagille syndrome (ALGS) is an autosomal dominant multisystem disorder with cholestasis
as a defining clinical feature. We sought to characterize hepatic outcomes in a molecularly …

Abstract Background Aldosterone (Ald) is a crucial factor in maintaining electrolyte and
water homeostasis. Defect in either its synthesis or function causes salt wasting (SW) …