Developmental and Inherited Liver Disease

Review article: Hepatic steatosis and its associations with acute and chronic liver diseases

“…43 Some of the markers that may be studied to distinguish these cases include Rab9, associated with late endosomes, Rab11, associated with vesicles that are recycled to the plasma membrane, and Rab5, associated with early endosomes. 43 Nor is hepatic steatosis solely caused by fatty transformation of hepatocytes-in Niemann-Pick type C disease, for example, hepatic steatosis occurs but is predominantly due to foamy-appearing Kupffer cells and infiltrating macrophages, although the lysosomal accumulation of unesterified cholesterol and other lipids progressively involves hepatocytes 44 (pp. 207-208).…”

“…Acute fatty liver of pregnancy • Associated with third trimester of pregnancy, but has been reported in second trimester and post-partum • Associated with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency in foetus (HADHA c. 1528G>C is common, as is compound heterozygosity), 257 male foetus, multiple gestation and prior attacks are risk factors 258 Hepatocerebral mitochondrial DNA depletion syndromes 373 • Childhood and infantile forms of Navajo neurohepatopathy are characterised by acute liver failure, while a classic form presents with neurologic symptoms that precede development of cirrhosis • Navajo neurohepatopathy is associated with MPV17 mutations (a nuclear gene encoding a mitochondrial inner membrane protein) and mitochondrial DNA depletion 44 (pp. 212-213); 374,375 • POLG mutations (a nuclear gene encoding mitochondrial DNA polymerase gamma) associated with Alpers-Huttenlocher syndrome can similarly result in macrovesicular and microvesicular hepatic steatosis [373][374][375] • Use of valproic acid or divalproex can cause serious liver dysfunction in children with Alpers-Huttenlocher syndrome or childhood myocerebrohepatopathy spectrum, which are POLG-related disorders 376 Inborn errors of ureagenesis • Deficiency in urea cycle enzymes including ornithine transcarbamylase or carbamoyl phosphate synthase 121 • Argininosuccinic aciduria is associated with argininosuccinic lyase deficiency, macrovesicular steatosis and megamitochondria 44 (pp.…”

“…often superimposed on advanced chronic liver disease as acute-on-chronic liver failure in the setting of active alcohol use379 • Stringently selected patients based on clinical and laboratory data benefit from corticosteroids26 Products in Chinese traditional medicine derived, respectively, from Lycopodium serratum and the root of Scutellaria spp 4. (p. 768) • Both associated with microvesicular steatosis 4 (p. 769) • Other names for syo-saiko-to include xiao-chai-hu-tan and dai-saiko-to 4 (p. 769) Associated with use of aspirin in children during flu-like illness44 (pp [231][232]. • Distinguish from aspirin overdose, which has less striking steatosis and generally some necrosis 4 (p.…”